ARG1

Summary

ARG1 (arginase 1, HGNC:663) is a protein-coding gene on chromosome 6q23.2, encoding Arginase-1 (P05089). Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place pri….

Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 383 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arginase deficiency (Definitive, ClinGen)
• GWAS associations: 20
• Clinical variants (ClinVar): 531 total — 63 pathogenic, 47 likely-pathogenic
• Phenotypes (HPO): 31
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000045

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:663
Approved symbol	ARG1
Name	arginase 1
Location	6q23.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000118520
Ensembl biotype	protein_coding
OMIM	608313
Entrez	383

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 11 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000275196, ENST00000356962, ENST00000368087, ENST00000469293, ENST00000484820, ENST00000498260, ENST00000672052, ENST00000672233, ENST00000673234, ENST00000673427, ENST00000875750, ENST00000875751, ENST00000875752, ENST00000875753, ENST00000875754, ENST00000875755, ENST00000875756

RefSeq mRNA: 3 — MANE Select: NM_000045 NM_000045, NM_001244438, NM_001369020

CCDS: CCDS5145, CCDS59038, CCDS94002

Canonical transcript exons

ENST00000368087 — 8 exons

Exon	Start	End
ENSE00000798683	131583355	131583491
ENSE00001873351	131573226	131573339
ENSE00003493535	131576663	131576735
ENSE00003566196	131579111	131579285
ENSE00003588412	131581219	131581378
ENSE00003651378	131582621	131582715
ENSE00003677626	131583060	131583164
ENSE00003894295	131583742	131584329

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 99.42.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.9918 / max 1881.2772, expressed in 135 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69788	6.9918	135

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.42	gold quality
liver	UBERON:0002107	99.40	gold quality
penis	UBERON:0000989	99.07	gold quality
upper arm skin	UBERON:0004263	98.65	gold quality
trabecular bone tissue	UBERON:0002483	98.05	gold quality
bone marrow	UBERON:0002371	97.71	gold quality
mammalian vulva	UBERON:0000997	97.31	gold quality
bone marrow cell	CL:0002092	95.97	gold quality
skin of leg	UBERON:0001511	95.15	gold quality
zone of skin	UBERON:0000014	93.61	gold quality
skin of hip	UBERON:0001554	92.03	gold quality
skin of abdomen	UBERON:0001416	91.71	gold quality
blood	UBERON:0000178	86.49	gold quality
right lung	UBERON:0002167	84.19	gold quality
spleen	UBERON:0002106	83.07	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.96	gold quality
monocyte	CL:0000576	81.29	gold quality
mononuclear cell	CL:0000842	80.89	gold quality
leukocyte	CL:0000738	80.27	gold quality
tongue squamous epithelium	UBERON:0006919	79.56	silver quality
nipple	UBERON:0002030	78.83	gold quality
upper leg skin	UBERON:0004262	77.20	gold quality
upper lobe of left lung	UBERON:0008952	75.76	gold quality
left uterine tube	UBERON:0001303	74.47	gold quality
upper lobe of lung	UBERON:0008948	74.44	gold quality
gingival epithelium	UBERON:0001949	70.90	gold quality
adrenal tissue	UBERON:0018303	70.83	gold quality
granulocyte	CL:0000094	70.68	gold quality
decidua	UBERON:0002450	70.65	silver quality
lower esophagus mucosa	UBERON:0035834	69.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	4693.65
E-MTAB-10553	yes	38.52
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting ARG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-4720-3P	98.50	68.88	988

Literature-anchored findings (GeneRIF, showing 40)

• crystal structure: arginase-boronic acid complex highlights a physiological role in erectile function (PMID:10542097)
• Arginase I is induced in human monocytes after trauma. (PMID:11224628)
• Anti-CYP2D6 antibodies detected by quantitative radioligand assay and relation to antibodies to liver-specific arginase in patients with autoimmune hepatitis. (PMID:11750286)
• gene expression in erythrocytes (PMID:12083807)
• Overexpression of arginase is associated with colorectal carcinoma and colorectal liver metastasis (PMID:12115381)
• the interaction of human liver arginase with tightly and weakly bound manganese ions by chemical modification and site-directed mutagenesis, weakly bound metal ion is needed only for conversion of active species (PMID:12139964)
• Increased plasma arginase I due to hemolysis reduces plasma arginine and contributes to pulmonary hypertension in sickle cell disease. (PMID:15998894)
• Lung tissue from patients with IPF showed increased expression of arginase I. These results suggest that virus-induced upregulation of arginase I could be a mechanism driving lung fibrogenesis. (PMID:16709958)
• Differentiation of cytotrophoblasts into syncytiotrophoblasts may be associated with l-arginine metabolism through modulation of l-arginine availability for eNOS and A-I. (PMID:16720041)
• The results showed that flotillin-1 can interact with arginase1, and hence arginase activity was up-regulated by 26.8%. (PMID:17113085)
• activated neutrophils coreleased ARG1 and gelatinase to the extracellular environment (PMID:17119118)
• prostaglandin E(2) produced by the tumor induces arginase I expression in myeloid-derived suppressor cells [review] (PMID:17255300)
• Arginase is up-regulated with hypertension. (PMID:17347269)
• ARG1 polymorphizm is consistently associated with myocardial infarct and an increased common carotid intima media thickness. (PMID:17369504)
• Crystal structure of human arginase I (PMID:17469833)
• Arginase-1 is expressed and functionally important for collagen deposition in lung fibroblasts. (PMID:17934065)
• Increased capacity to upregulate arginase in younger individuals results in a more permissive environment for parasite growth, increased disease severity and pathology. (PMID:18478052)
• ARG1 (arginase 1) is a novel gene for acute brochodilator response in both children and adults with asthma. (PMID:18617639)
• The S-shaped motif of Arg1 is suggested as essential for the cooperative response of the enzyme to l-arginine at pH 7.5. (PMID:18957279)
• Case Report: report blood/CSF amino acid levels in an infant with arginase1 deficiency, who presented unusually early with hyperammonaemia. (PMID:19052914)
• Preoperative L-arginine concentration in the patient groups was 2-fold higher, whereas arginase activity was over 3- and 6-fold higher in colorectal cancer and colorectal cancer liver metastasis when compared with control. (PMID:19101531)
• Over-expression of arginase I is associated with hepatocarcinogenesis. (PMID:19253371)
• ARG1 and ARG2 loci are associated with childhood asthma. The association between ARG1 variation and asthma might depend on atopy and ambient ozone levels. (PMID:19281908)
• Increase in arginase activity is associated with carcinoma of the gallbladder. (PMID:19282757)
• Expression of ARG1 was increased in human asthma, whereas ARG2, NOS isoforms, and the other l-arginine-related proteins (i.e., cationic amino acid transporters 1 and 2, agmatinase, and ornithine decarboxylase) were unchanged (PMID:19286931)
• show that ischemia markedly potentiated the expression of arginase-1, and also induced the SOD2 in the wound tissue. (PMID:19293328)
• These data support the role of ARG1 in vascular pathophysiology, but the functional mutations remain to be identified. (PMID:19303401)
• Increased ARG1 plasma levels are associated with nonsmall cell lung cancer. (PMID:19431148)
• This review discusses the two arginase isoforms expressed in mammals: arginase I (cytosolic) and arginase II (mitochondrial), products of distinct genes located on different chromosomes and regulated independently. (PMID:19508396)
• Arginase AI activity and its mRNA level were significantly decreased in cirrhotic liver, whereas the activity and expression of arginase AII were concurrently raised, as compared to normal liver. (PMID:19636440)
• Increased arginase expression in preeclampsia can induce uncoupling of NOS as a source of superoxide in the maternal vasculature in preeclampsia. (PMID:19684035)
• Methylglyoxal-induced LOX-1 expression is mediated via arginase upregulation likely because of uncoupling of NO synthase, which may have implications in preeclampsia. (PMID:19687346)
• Extracellular activation of arginase-1 decreases enterocyte inducible nitric oxide synthase activity during systemic inflammation. (PMID:19713467)
• These data support our hypothesis that hypoxia increases proliferation of human pulmonary artery smooth muscle cells through the induction of arginase II. (PMID:19801451)
• ARG1 mutation is expected to result in complete loss-of-function of the arginase enzyme and therefore is the mostly likely cause of argininemia in this family (PMID:19936428)
• Embryonic stem cell arginase I activity plays a role in the attenuation of maternal T cell activation in the embryo’s microenvironment. (PMID:20032293)
• Association of ARG1 gene polymorphism is present in adult asthma, has lower reversibility specific with beta2 agonists. It is also associated with asthma severity, severe airway hyperresponsiveness, and less long-term response to inhaled corticosteroids. (PMID:20124949)
• Human arginase I is a binuclear manganese metalloenzyme that catalyzes the hydrolysis of L-arginine to generate L-ornithine and urea. (PMID:20153713)
• Loss of arginase is associated with allergic pulmonary inflammation. (PMID:20200399)
• Arg-1 is a sensitive and specific marker of hepatocytes and, as such, can be used to distinguish hepatocellular carcinomas from metastatic tumors in the liver. (PMID:20661013)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arg1	ENSDARG00000057429
mus_musculus	Arg1	ENSMUSG00000019987
rattus_norvegicus	Arg1	ENSRNOG00000013304
drosophila_melanogaster	arg	FBGN0023535

Paralogs (2): ARG2 (ENSG00000081181), AGMAT (ENSG00000116771)

Protein

Protein identifiers

Arginase-1 — P05089 (reviewed: P05089)

Alternative names: Liver-type arginase, Type I arginase

All UniProt accessions (4): P05089, A0A5F9ZGN6, A0A5F9ZGY6, A0A5F9ZH78

UniProt curated annotations — full annotation on UniProt →

Function. Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion. In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival. In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure.

Subunit / interactions. Homotrimer. Interacts with CMTM6.

Subcellular location. Cytoplasm. Cytoplasmic granule.

Tissue specificity. Within the immune system initially reported to be selectively expressed in granulocytes (polymorphonuclear leukocytes [PMNs]). Also detected in macrophages mycobacterial granulomas. Expressed in group2 innate lymphoid cells (ILC2s) during lung disease.

Disease relevance. Argininemia (ARGIN) [MIM:207800] A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, intellectual disability, hypotonia, ataxia and progressive spastic quadriplegia. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 2 manganese ions per subunit.

Induction. By arginine or homoarginine.

Pathway. Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.

Miscellaneous. May be due to a competing acceptor splice site.

Similarity. Belongs to the arginase family.

Isoforms (3)

UniProt ID	Names	Canonical?
P05089-1	1	yes
P05089-2	2, Erythroid variant
P05089-3	3

RefSeq proteins (3): NP_000036, NP_001231367, NP_001355949 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006035	Ureohydrolase	Family
IPR014033	Arginase	Family
IPR020855	Ureohydrolase_Mn_BS	Binding_site
IPR023696	Ureohydrolase_dom_sf	Homologous_superfamily

Pfam: PF00491

Enzyme classification (BRENDA):

• EC 3.5.3.1 — arginase (BRENDA: 62 organisms, 63 substrates, 320 inhibitors, 146 Km, 104 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-ARGININE	0.02–171.9	120
L-ARG	0.69–130	14
L-PHENYLALANINE	22.1–57.5	3
1-NITRO-3-GUANIDINOBENZENE	1.6	1
4-GUANIDINO-2-NITROPHENYLACETIC ACID	0.01	1
4-GUANIDINO-3-NITROBENZOIC ACID	0.007	1
AGMATINE	2.5	1
L-CANAVANINE	22.2	1
L-THIOARGININE	0.5	1
S-(4-AMINOBUTYL)ISOTHIOUREA	4	1
THIOGUANIDINO-VALERIC ACID	2.1	1

Catalyzed reactions (Rhea), 1 shown:

• L-arginine + H2O = urea + L-ornithine (RHEA:20569)

UniProt features (69 total): helix 18, binding site 13, strand 13, sequence variant 10, modified residue 6, sequence conflict 3, turn 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

60 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2AEB	X-RAY DIFFRACTION	1.29
4HWW	X-RAY DIFFRACTION	1.3
3GMZ	X-RAY DIFFRACTION	1.43
4HXQ	X-RAY DIFFRACTION	1.45
3MFW	X-RAY DIFFRACTION	1.47
4GSV	X-RAY DIFFRACTION	1.48
3THJ	X-RAY DIFFRACTION	1.5
6Q92	X-RAY DIFFRACTION	1.5
3DJ8	X-RAY DIFFRACTION	1.51
4GWD	X-RAY DIFFRACTION	1.53
3KV2	X-RAY DIFFRACTION	1.55
3SJT	X-RAY DIFFRACTION	1.6
3F80	X-RAY DIFFRACTION	1.6
6QAF	X-RAY DIFFRACTION	1.61
3TF3	X-RAY DIFFRACTION	1.64
7K4H	X-RAY DIFFRACTION	1.65
6Q9P	X-RAY DIFFRACTION	1.66
2ZAV	X-RAY DIFFRACTION	1.7
3GN0	X-RAY DIFFRACTION	1.7
4GSM	X-RAY DIFFRACTION	1.7
3SKK	X-RAY DIFFRACTION	1.7
3E6V	X-RAY DIFFRACTION	1.72
6V7C	X-RAY DIFFRACTION	1.8
7K4G	X-RAY DIFFRACTION	1.8
7KLK	X-RAY DIFFRACTION	1.8
4FCI	X-RAY DIFFRACTION	1.82
6V7D	X-RAY DIFFRACTION	1.82
8E5M	X-RAY DIFFRACTION	1.84
3THH	X-RAY DIFFRACTION	1.85
2PHA	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05089-F1	97.01	0.96

Antibody-complex structures (SAbDab): 6 — 7LEX, 7LEY, 7LEZ, 7LF0, 7LF1, 7LF2

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (13): 101; 232; 234; 246; 277; 124; 124; 126–130; 126; 128; 137–139; 183 …

Post-translational modifications (6): 17, 62, 72, 75, 163, 217

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-70635	Urea cycle
R-HSA-9956514	ARG1 variants cause hyperargininemia
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 352 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MODULE_255, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE

GO Biological Process (14): urea cycle (GO:0000050), adaptive immune response (GO:0002250), L-arginine catabolic process (GO:0006527), response to nematode (GO:0009624), negative regulation of T cell proliferation (GO:0042130), defense response to protozoan (GO:0042832), innate immune response (GO:0045087), negative regulation of activated T cell proliferation (GO:0046007), negative regulation of type II interferon-mediated signaling pathway (GO:0060336), positive regulation of neutrophil mediated killing of fungus (GO:0070965), negative regulation of T-helper 2 cell cytokine production (GO:2000552), immune system process (GO:0002376), arginine metabolic process (GO:0006525), regulation of cell population proliferation (GO:0042127)

GO Molecular Function (6): arginase activity (GO:0004053), manganese ion binding (GO:0030145), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813), metal ion binding (GO:0046872)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), azurophil granule lumen (GO:0035578), specific granule lumen (GO:0035580)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Innate Immune System	1
Metabolism of amino acids and derivatives	1
Diseases of the urea cycle	1
Immune System	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
immune response	2
secretory granule lumen	2
biosynthetic process	1
urea metabolic process	1
arginine metabolic process	1
L-amino acid catabolic process	1
proteinogenic amino acid catabolic process	1
response to other organism	1
T cell proliferation	1
regulation of T cell proliferation	1
negative regulation of lymphocyte proliferation	1
negative regulation of T cell activation	1
response to protozoan	1
defense response to other organism	1
defense response to symbiont	1
negative regulation of T cell proliferation	1
regulation of activated T cell proliferation	1
activated T cell proliferation	1
negative regulation of cytokine-mediated signaling pathway	1
negative regulation of response to type II interferon	1
type II interferon-mediated signaling pathway	1
regulation of type II interferon-mediated signaling pathway	1
neutrophil-mediated killing of fungus	1
regulation of neutrophil mediated killing of fungus	1
positive regulation of neutrophil mediated killing of symbiont cell	1
negative regulation of T cell cytokine production	1
negative regulation of type 2 immune response	1
T-helper 2 cell cytokine production	1
regulation of T-helper 2 cell cytokine production	1
biological_process	1
amino acid metabolic process	1
carboxylic acid metabolic process	1
cell population proliferation	1
regulation of cellular process	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines	1
transition metal ion binding	1
binding	1
catalytic activity	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	1

Protein interactions and networks

STRING

4196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARG1	IL10	P22301	888
ARG1	IL4	P05112	881
ARG1	MRC1	P22897	877
ARG1	OAT	P04181	852
ARG1	RETNLB	Q9BQ08	836
ARG1	SLC7A2	P52569	833
ARG1	NOS2	P35228	810
ARG1	ASS1	P00966	807
ARG1	IFNG	P01579	802
ARG1	IL13	P35225	798
ARG1	IL6	P05231	793
ARG1	IL1B	P01584	791
ARG1	ASL	P04424	788
ARG1	ITGAM	P11215	786
ARG1	TNF	P01375	778

IntAct

84 interactions, top by confidence:

A	B	Type	Score
ESR1	ESR1	psi-mi:“MI:0914”(association)	0.870
MAX	E2F6	psi-mi:“MI:0914”(association)	0.710
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
ALDH3A1	RCCD1	psi-mi:“MI:0914”(association)	0.640
	ARG1	psi-mi:“MI:0407”(direct interaction)	0.560
CCDC51	TGM5	psi-mi:“MI:0914”(association)	0.530
ZIC1	CTSV	psi-mi:“MI:0914”(association)	0.530
CBX1	ZNF292	psi-mi:“MI:0914”(association)	0.530
FLOT1	ARG1	psi-mi:“MI:0407”(direct interaction)	0.440
ARG1	ARG2	psi-mi:“MI:0915”(physical association)	0.400
ARG1	PPP3CC	psi-mi:“MI:0915”(physical association)	0.400
ARG1	ALDH4A1	psi-mi:“MI:0915”(physical association)	0.370
METTL14	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
TRAF2	TMEM178B	psi-mi:“MI:0914”(association)	0.350
ATXN1		psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
USP53	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
GSK3A	PRSS37	psi-mi:“MI:0914”(association)	0.350
GSK3B	PRSS37	psi-mi:“MI:0914”(association)	0.350
KDM4A	PIPSL	psi-mi:“MI:0914”(association)	0.350
SETD7	MYL12B	psi-mi:“MI:0914”(association)	0.350
WRAP73	GGCT	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (152): ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2I4HXH5, A5D6U8, B3A0N5, B6EWW8, E0D877, F8S0Z7, O00462, O35409, P05089, P15693, P19492, P21588, P21589, P29240, P31422, P42263, P49614, P49900, P50635, P52307, P70627, P83456, P83852, Q05927, Q14832, Q1ZZH1, Q29444, Q2KJ64, Q4FZV0, Q561R9, Q5R979, Q5RAL3, Q5RFI5, Q5TVM9, Q5XGR8, Q61503, Q641Z7, Q6AYS4, Q6PCE3, Q8CAA7

Diamond homologs: A0A2R2JFW7, A0A509AF89, C4LSS0, O08691, O08701, P00812, P05089, P07824, P0A2X9, P0A2Y0, P0A2Y1, P14012, P30759, P33280, P37818, P39138, P40906, P49900, P53608, P60086, P60087, P60088, P78540, Q10066, Q12611, Q1E180, Q2KJ64, Q4VK78, Q58DL1, Q61176, Q6CIB4, Q6CLS8, Q6G7E9, Q6GER3, Q74ZW4, Q7M0Z3, Q8I384, Q8NVE3, Q91553, Q91554

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
AR	“up-regulates quantity by expression”	ARG1	“transcriptional regulation”
ARG1	“up-regulates quantity”	L-ornithine	“chemical modification”
L-arginine	up-regulates	ARG1
STAT6	up-regulates	ARG1

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of miRNA transcription	5	14.5×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

531 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	63
Likely pathogenic	47
Uncertain significance	144
Likely benign	225
Benign	16

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1064873	NM_000045.4(ARG1):c.839del (p.Pro280fs)	Pathogenic
1072006	NM_000045.4(ARG1):c.272del (p.Gly91fs)	Pathogenic
1074774	NM_000045.4(ARG1):c.50del (p.Lys17fs)	Pathogenic
1332810	NM_000045.4(ARG1):c.547_549del (p.Asp183del)	Pathogenic
1343393	NM_000045.4(ARG1):c.305+1G>A	Pathogenic
1385981	NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)	Pathogenic
1386013	NM_000045.4(ARG1):c.603_604del (p.Glu202fs)	Pathogenic
1427598	NM_000045.4(ARG1):c.130+1G>A	Pathogenic
1451696	NM_000045.4(ARG1):c.577_578del (p.Leu193fs)	Pathogenic
1453308	NM_000045.4(ARG1):c.766G>T (p.Glu256Ter)	Pathogenic
1453446	NM_000045.4(ARG1):c.807_811del (p.Leu270fs)	Pathogenic
1458205	NM_000045.4(ARG1):c.820_823dup (p.Ile275fs)	Pathogenic
1501863	NM_000045.4(ARG1):c.560+2T>C	Pathogenic
1973646	NM_000045.4(ARG1):c.371A>G (p.Asp124Gly)	Pathogenic
1999814	NM_000045.4(ARG1):c.157del (p.Leu53fs)	Pathogenic
2018545	NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)	Pathogenic
203606	NM_000045.4(ARG1):c.272dup (p.Arg92fs)	Pathogenic
2041678	NC_000006.12:g.131583354GAAA[1]	Pathogenic
2058364	NM_000045.4(ARG1):c.802+1G>A	Pathogenic
2064930	NM_000045.4(ARG1):c.594_595dup (p.Ser199fs)	Pathogenic
2102477	NM_000045.4(ARG1):c.57+1G>T	Pathogenic
2124468	NM_000045.4(ARG1):c.640del (p.Glu214fs)	Pathogenic
2129477	NM_000045.4(ARG1):c.159_163del (p.Pro54fs)	Pathogenic
2133556	NM_000045.4(ARG1):c.666-2A>C	Pathogenic
2136470	NM_000045.4(ARG1):c.401C>T (p.Thr134Ile)	Pathogenic
2136471	NM_000045.4(ARG1):c.673del (p.Arg225fs)	Pathogenic
2386	NM_000045.4(ARG1):c.263_266del (p.Lys88fs)	Pathogenic
2387	NM_000045.4(ARG1):c.78del (p.Gly27fs)	Pathogenic
2388	NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	Pathogenic
2389	NM_000045.4(ARG1):c.869C>G (p.Thr290Ser)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2075 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:131581296:A:T	D128V	0.999
6:131581277:T:A	W122R	0.998
6:131581277:T:C	W122R	0.998
6:131583377:A:C	S230R	0.998
6:131583379:T:A	S230R	0.998
6:131583379:T:G	S230R	0.998
6:131583390:A:T	D234V	0.998
6:131583391:C:A	D234E	0.998
6:131583391:C:G	D234E	0.998
6:131581284:A:T	D124V	0.997
6:131581285:T:A	D124E	0.997
6:131581285:T:G	D124E	0.997
6:131581295:G:C	D128H	0.997
6:131581296:A:C	D128A	0.997
6:131581297:T:A	D128E	0.997
6:131581297:T:G	D128E	0.997
6:131582695:A:C	R180S	0.997
6:131582695:A:T	R180S	0.997
6:131583384:A:T	D232V	0.997
6:131583385:T:A	D232E	0.997
6:131583385:T:G	D232E	0.997
6:131583769:A:T	E277V	0.997
6:131579278:G:C	D100H	0.996
6:131579279:A:T	D100V	0.996
6:131579283:C:A	H101Q	0.996
6:131579283:C:G	H101Q	0.996
6:131581232:A:C	S107R	0.996
6:131581234:C:A	S107R	0.996
6:131581234:C:G	S107R	0.996
6:131581291:C:A	H126Q	0.996

dbSNP variants (sampled 300 via entrez): RS1000157171 (6:131574975 A>G), RS1000451954 (6:131584017 G>T), RS1000793642 (6:131582460 G>A,T), RS1001645468 (6:131575825 G>A), RS1001681431 (6:131574290 T>G), RS1001842006 (6:131574566 G>A), RS1001906565 (6:131576163 G>A,C), RS1002373049 (6:131581087 C>T), RS1002381054 (6:131574108 G>A), RS1002736485 (6:131580005 A>G), RS1003113919 (6:131583931 T>C), RS1003121552 (6:131579108 TAG>T), RS1003765832 (6:131572710 C>G), RS1003922823 (6:131572705 A>C), RS1003946085 (6:131574970 A>G)

Disease associations

OMIM: gene MIM:608313 | disease phenotypes: MIM:207800, MIM:614249

GenCC curated gene-disease

Disease	Classification	Inheritance
arginase deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
arginase deficiency	Definitive	AR

Mondo (2): arginase deficiency (MONDO:0008814), intellectual disability, autosomal recessive 18 (MONDO:0013651)

Orphanet (2): Argininemia (Orphanet:90), Autosomal recessive non-syndromic intellectual disability (Orphanet:88616)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000708	Atypical behavior
HP:0000737	Irritability
HP:0000752	Hyperactivity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001396	Cholestasis
HP:0001413	Micronodular cirrhosis
HP:0001987	Hyperammonemia
HP:0002013	Vomiting
HP:0002039	Anorexia
HP:0002064	Spastic gait
HP:0002167	Abnormal speech pattern
HP:0002240	Hepatomegaly
HP:0002313	Spastic paraparesis
HP:0002353	EEG abnormality
HP:0002359	Frequent falls
HP:0002478	Progressive spastic quadriplegia
HP:0002572	Episodic vomiting
HP:0003218	Oroticaciduria
HP:0003623	Neonatal onset
HP:0004374	Hemiplegia/hemiparesis
HP:0006580	Portal fibrosis
HP:0008339	Diaminoaciduria
HP:0008897	Postnatal growth retardation
HP:0010864	Severe intellectual disability
HP:0011463	Childhood onset
HP:0500153	Hyperargininemia

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001057_7	Obesity	3.000000e-07
GCST002424_3	C-reactive protein levels	3.000000e-08
GCST005577_5	Change in glucose in response to thiazide diuretic treatment in hypertension	6.000000e-07
GCST005984_48	Glomerular filtration rate	3.000000e-12
GCST005985_26	Creatinine levels	3.000000e-11
GCST006585_2989	Blood protein levels	1.000000e-07
GCST006867_54	Type 2 diabetes	2.000000e-08
GCST007344_79	Estimated glomerular filtration rate	4.000000e-10
GCST007876_51	Estimated glomerular filtration rate	2.000000e-11
GCST008058_58	Estimated glomerular filtration rate	2.000000e-27
GCST008059_2	Estimated glomerular filtration rate	5.000000e-17
GCST008060_7	Estimated glomerular filtration rate	1.000000e-08
GCST008064_22	Chronic kidney disease	2.000000e-06
GCST008746_18	Estimated glomerular filtration rate in diabetes	3.000000e-08
GCST008747_53	Estimated glomerular filtration rate	2.000000e-15
GCST010241_409	Apolipoprotein A1 levels	2.000000e-10
GCST010242_459	HDL cholesterol levels	8.000000e-11
GCST012020_125	Serum metabolite levels	8.000000e-27
GCST012020_520	Serum metabolite levels	1.000000e-16
GCST012021_61	Serum metabolite levels	1.000000e-16

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004468	glucose measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020162	Hyperargininemia	C10.228.140.163.100.937.500; C16.320.565.100.940.500; C16.320.565.189.937.500; C18.452.132.100.937.437; C18.452.648.100.940.437; C18.452.648.189.937.437

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1075097 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 965 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL4218271	NUMIDARGISTAT	2	927
CHEMBL1234777	NOR-NOHA	1	38

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2781659	Efficacy	3	selective beta-2-adrenoreceptor agonists	Asthma

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2781659	ARG1, MED23	3	3.00	1	selective beta-2-adrenoreceptor agonists
rs2781666	ARG1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Arginase

Most potent curated ligand interactions (3 total), top 3:

Ligand	Action	Affinity	Parameter
2(S)-amino-6-boronohexanoic acid	Inhibition	8.3	pKd
compound 9 [PMID: 23472952]	Inhibition	6.65	pIC50
A1P	Inhibition	5.7	pKd

Binding affinities (BindingDB)

40 measured of 79 human assays (79 total across all organisms); most potent 40 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
CHEMBL4873520	IC50	2.2 nM
CHEMBL4871097	IC50	3.9 nM
(3aS,4R,6aR)-1-[(2S)-2-aminopropanoyl]-4-(4-boronobutyl)-2,3,3a,5,6,6a-hexahydropyrrolo[2,3-c]pyrrole-4-carboxylic acid	IC50	550 nM	US-20250320233: ARGINASE INHIBITOR AND PHARMACEUTICAL COMPOSITION COMPRISING THE SAME
(3aS,4R,6aR)-1-[(2S)-2-amino-3-phenylpropanoyl]-4-(4-boronobutyl)-2,3,3a,5,6,6a-hexahydropyrrolo[2,3-c]pyrrole-4-carboxylic acid	IC50	550 nM	US-20250320233: ARGINASE INHIBITOR AND PHARMACEUTICAL COMPOSITION COMPRISING THE SAME
(3aS,4R,6aR)-4-(4-boronobutyl)-1-[(2S)-pyrrolidine-2-carbonyl]-2,3,3a,5,6,6a-hexahydropyrrolo[2,3-c]pyrrole-4-carboxylic acid	IC50	550 nM	US-20250320233: ARGINASE INHIBITOR AND PHARMACEUTICAL COMPOSITION COMPRISING THE SAME
(3aS,4R,6aR)-1-[(2R,3S)-2-amino-3-hydroxybutanoyl]-4-(4-boronobutyl)-2,3,3a,5,6,6a-hexahydropyrrolo[2,3-c]pyrrole-4-carboxylic acid	IC50	550 nM	US-20250320233: ARGINASE INHIBITOR AND PHARMACEUTICAL COMPOSITION COMPRISING THE SAME
(3aS,4R,6aR)-4-(4-boronobutyl)-1-[2-(methylamino)ethyl]-2,3,3a,5,6,6a-hexahydropyrrolo[2,3-c]pyrrole-4-carboxylic acid	IC50	550 nM	US-20250320233: ARGINASE INHIBITOR AND PHARMACEUTICAL COMPOSITION COMPRISING THE SAME
(1S,2S)-1-amino-2-(3-boronopropyl)cyclopentanecarboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-4-amino-3-(3-boronopropyl)piperidine-4-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3S,4S)-4-amino-3-(3-boronopropyl)piperidine-4-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-isobutylpyrrolidine-3- carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-1-benzyl-4-(3-boronopropyl)pyrrolidine-3- carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(pyridin-3- ylmethyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(piperidin)-4- ylmethyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(quinolin-4- ylmethyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(3-(4- chlorophenyl)propyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(7H-purin-6-yl)pyrrolidine- 3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
5-((3R,4S)-3-amino-4-(3-boronopropyl)-3-carboxypyrrolidin-1- yl)nicotinic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(piperidin-4-yl)pyrrolidine- 3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4- carboxycyclohexyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-4-(3-boronopropyl)-3-(methylamino)pyrrolidine-3- carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4- chlorophenylcarbamoyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(2-(4- chlorophenyl)acetyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4- fluorobenzoyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4- methoxybenzoyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4- fluorophenylcarbamoyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-1-(2-aminophenylsulfonyl)-4-(3- boronopropyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-1-(2-amino-3-(4- (trifluoromethyl)phenyl)propanoyl)-4-(3-boronopropyl)pyrrolidine- 3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-1-(2-(benzylamino)acetyl)-4-(3- boronopropyl)pyrrolidine-3-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(1S,2S,4S)-1,4-diamino-2-(3-boronopropyl)cyclopentanecarboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(1S,2S,4S)-1-amino-4-(aminomethyl)-2-(3-boronopropyl)cyclopentane-1-carboxylic acid	IC50	625 nM	US-10098902: Arginase inhibitors as therapeutics
(2R,3S)-3-amino-2-(3-boronopropyl)tetrahydrofuran-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
3-amino-2-(3-boronopropyl)tetrahydrothiophene-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4R)-3-amino-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(pyridin-2- ylmethyl)pyrrolidine-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(4-methylpyridin-3- yl)pyrrolidine-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(2-(methylamino)-3- phenylpropanoyl)pyrrolidine-3-carboxylic acid	IC50	1500 nM	US-10098902: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(7H-purin-6-yl)pyrrolidine- 3-carboxylic acid	IC50	2000 nM	US-10603330: Arginase inhibitors as therapeutics
(3R,4S)-3-amino-4-(3-boronopropyl)-1-(3-(dimethylamino)-2,2- dimethylpropyl)pyrrolidine-3-carboxylic acid	IC50	3500 nM	US-10098902: Arginase inhibitors as therapeutics

ChEMBL bioactivities

525 potent at pChembl≥5 of 591 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.00	IC50	0.1	nM	CHEMBL4764455
10.00	IC50	0.1	nM	CHEMBL6161542
9.10	IC50	0.8	nM	CHEMBL4754637
9.10	IC50	0.8	nM	CHEMBL4748950
9.00	IC50	1	nM	CHEMBL4793482
9.00	IC50	1	nM	CHEMBL4749434
9.00	IC50	1	nM	CHEMBL4755855
9.00	IC50	1	nM	CHEMBL4750602
9.00	IC50	1	nM	CHEMBL5193387
9.00	IC50	1	nM	CHEMBL5184299
9.00	IC50	1	nM	CHEMBL5176739
9.00	IC50	1	nM	CHEMBL5171566
9.00	IC50	1	nM	CHEMBL5170454
8.89	IC50	1.3	nM	CHEMBL4538713
8.80	IC50	1.6	nM	CHEMBL4791224
8.80	IC50	1.6	nM	CHEMBL4871970
8.70	IC50	2	nM	CHEMBL4850213
8.66	IC50	2.2	nM	CHEMBL4873520
8.60	IC50	2.5	nM	CHEMBL4450972
8.59	IC50	2.6	nM	CHEMBL4557975
8.52	IC50	3	nM	CHEMBL4749355
8.52	IC50	3	nM	CHEMBL4763578
8.49	IC50	3.2	nM	CHEMBL4763578
8.49	IC50	3.2	nM	CHEMBL4845730
8.41	IC50	3.9	nM	CHEMBL4871097
8.40	IC50	4	nM	CHEMBL4639893
8.40	IC50	4	nM	CHEMBL4778978
8.30	IC50	5	nM	CHEMBL4640681
8.30	Kd	5	nM	CHEMBL1812661
8.30	IC50	5	nM	CHEMBL4864502
8.30	IC50	5	nM	CHEMBL4852406
8.30	IC50	5	nM	CHEMBL4865209
8.30	IC50	5	nM	CHEMBL1812661
8.22	IC50	6	nM	CHEMBL4778978
8.16	IC50	6.9	nM	CHEMBL4648504
8.15	IC50	7	nM	CHEMBL4648504
8.15	IC50	7	nM	CHEMBL4868283
8.15	IC50	7	nM	CHEMBL4752307
8.11	IC50	7.7	nM	CHEMBL4518246
8.10	IC50	8	nM	CHEMBL4762611
8.10	IC50	8	nM	CHEMBL4872801
8.00	IC50	10	nM	CHEMBL4461464
8.00	IC50	10	nM	CHEMBL4572850
8.00	IC50	10	nM	CHEMBL4594157
8.00	IC50	10	nM	CHEMBL4752307
7.96	IC50	11	nM	CHEMBL4578964
7.96	IC50	11	nM	CHEMBL4875641
7.92	IC50	12	nM	CHEMBL4633222
7.89	IC50	13	nM	CHEMBL4646013
7.85	IC50	14	nM	CHEMBL4440992

PubChem BioAssay actives

298 with measured affinity, of 407 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(3R,4S)-3-amino-1-(2-aminoethylsulfamoyl)-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1724061: Inhibition of human Arg1	ic50	0.0001	uM
(2S,3R,4R)-4-[[(2S)-2-amino-3,3-dimethylbutanoyl]amino]-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0008	uM
(2S,3R,4R)-4-[[(2S)-2-amino-2-cyclopentylacetyl]amino]-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0008	uM
(1R,2S,5R)-1-amino-5-(2-boronoethyl)-2-(piperidin-1-ylmethyl)cyclohexane-1-carboxylic acid	1724061: Inhibition of human Arg1	ic50	0.0010	uM
(2S,3R,5S)-3-amino-1-[(2S)-2-aminopropanoyl]-5-(2-boronoethyl)-2-methylpiperidine-3-carboxylic acid	1724061: Inhibition of human Arg1	ic50	0.0010	uM
(2S,3R,5S)-3-amino-1-[(2S)-2-amino-3-(1H-imidazol-5-yl)propanoyl]-5-(2-boronoethyl)-2-methylpiperidine-3-carboxylic acid	1724061: Inhibition of human Arg1	ic50	0.0010	uM
(2S,3R,5S)-3-amino-1-(2-aminoacetyl)-5-(2-boronoethyl)-2-methylpiperidine-3-carboxylic acid	1724061: Inhibition of human Arg1	ic50	0.0010	uM
(1R,2S,5R)-1-amino-2-[[[(2R)-2-aminopropanoyl]amino]methyl]-5-(2-boronoethyl)cyclohexane-1-carboxylic acid	1875446: Inhibition of recombinant human ARG1 expressed in Escherichia coli using L-arginine hydrochloride as substrate incubated for 1 hr by colorimetric assay	ic50	0.0010	uM
(1R,2S,5R)-1-amino-2-[[[(2S)-2-amino-4-methylpentanoyl]amino]methyl]-5-(2-boronoethyl)cyclohexane-1-carboxylic acid	1875446: Inhibition of recombinant human ARG1 expressed in Escherichia coli using L-arginine hydrochloride as substrate incubated for 1 hr by colorimetric assay	ic50	0.0010	uM
(1R,2S,5R)-1-amino-2-[[[(2R)-2-amino-3-methylbutanoyl]amino]methyl]-5-(2-boronoethyl)cyclohexane-1-carboxylic acid	1875446: Inhibition of recombinant human ARG1 expressed in Escherichia coli using L-arginine hydrochloride as substrate incubated for 1 hr by colorimetric assay	ic50	0.0010	uM
(1R,2S,5R)-1-amino-2-[[(2-aminoacetyl)amino]methyl]-5-(2-boronoethyl)cyclohexane-1-carboxylic acid	1875446: Inhibition of recombinant human ARG1 expressed in Escherichia coli using L-arginine hydrochloride as substrate incubated for 1 hr by colorimetric assay	ic50	0.0010	uM
(1R,2S,5R)-1-amino-2-[[[(2S)-2-amino-4-methylsulfanylbutanoyl]amino]methyl]-5-(2-boronoethyl)cyclohexane-1-carboxylic acid	1875446: Inhibition of recombinant human ARG1 expressed in Escherichia coli using L-arginine hydrochloride as substrate incubated for 1 hr by colorimetric assay	ic50	0.0010	uM
(3R,4S)-3-amino-1-[(2S)-2-amino-3-phenylpropyl]-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0013	uM
(2S,3R,4R)-4-[[(2S)-2-amino-4-methylpentanoyl]amino]-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0016	uM
(3aS,4S,6aR)-3a-(3-boronopropyl)-2,3,4,5,6,6a-hexahydro-1H-pyrrolo[2,3-c]pyrrole-4-carboxylic acid	1785783: Inhibition of ARG1 (unknown origin) assessed as reduction in thio-ornithine production using thioarginine as substrate by fluorimetric analysis	ic50	0.0016	uM
(2S,3R,4R)-4-[[(2S)-2-amino-3-methylbutanoyl]amino]-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0020	uM
(1S,5R,8S)-8-(3-boronopropyl)-2,6-diazabicyclo[3.2.1]octane-5-carboxylic acid	1785783: Inhibition of ARG1 (unknown origin) assessed as reduction in thio-ornithine production using thioarginine as substrate by fluorimetric analysis	ic50	0.0022	uM
(3R,4S)-3-amino-1-[(2S)-2-amino-2-phenylethyl]-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0025	uM
(3R,4S)-3-amino-4-(3-boronopropyl)-1-[[(2R)-piperidin-2-yl]methyl]pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0026	uM
(2R,4R)-2-(4-boronobutyl)-4-(methylamino)pyrrolidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0030	uM
(2S,3R,4R)-4-amino-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0030	uM
3-[(4aS,5S,7aR)-5-methoxycarbonyl-1,2,3,4,5,6,7,7a-octahydropyrrolo[3,4-b]pyridin-4a-yl]propylboronic acid	1785783: Inhibition of ARG1 (unknown origin) assessed as reduction in thio-ornithine production using thioarginine as substrate by fluorimetric analysis	ic50	0.0032	uM
(1R,5R,6R)-6-(3-boronopropyl)-2-azabicyclo[3.1.1]heptane-5-carboxylic acid	1785783: Inhibition of ARG1 (unknown origin) assessed as reduction in thio-ornithine production using thioarginine as substrate by fluorimetric analysis	ic50	0.0039	uM
(2S,3S,4R)-3-(3-boronopropyl)-4-hydroxypyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0040	uM
(1S,2S,3aR,5S,6aR)-2,5-diamino-1-(3-boronopropyl)-3,3a,4,5,6,6a-hexahydro-1H-pentalene-2-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0040	uM
(1S,2S,3aR,5S,6R,6aR)-2-amino-1-(3-boronopropyl)-6-fluoro-5-(methylamino)-3,3a,4,5,6,6a-hexahydro-1H-pentalene-2-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0050	uM
(2S,3R)-3-(aminomethyl)-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0050	uM
(2S,3R,4R)-3-(3-boronopropyl)-4-[[(2S)-3-methyl-2-(methylamino)butanoyl]amino]pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0050	uM
(3aS,4S,6aR)-3a-(3-boronopropyl)-1,3,4,5,6,6a-hexahydrofuro[3,4-c]pyrrole-4-carboxylic acid	1785783: Inhibition of ARG1 (unknown origin) assessed as reduction in thio-ornithine production using thioarginine as substrate by fluorimetric analysis	ic50	0.0050	uM
(2S)-2-amino-6-boronohexanoic acid	1724056: Binding affinity to human Arg1 at pH 8.5	kd	0.0050	uM
(1S,2S,3aR,5R,6R,6aR)-2-amino-1-(3-boronopropyl)-6-fluoro-5-(methylamino)-3,3a,4,5,6,6a-hexahydro-1H-pentalene-2-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0070	uM
(2S,3R,5R)-3-(3-boronopropyl)-5-methylpyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0070	uM
(3R,4S)-3-amino-1-[(2S)-2-aminopropyl]-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0077	uM
(2S,3S)-3-(aminomethyl)-3-(3-boronopropyl)azetidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0080	uM
(2S,3R,5S)-3-(3-boronopropyl)-5-(hydroxymethyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0080	uM
(2R,4R)-4-amino-2-(4-boronobutyl)pyrrolidine-2-carboxylic acid	1724058: Inhibition of human Arg1 by TOGA assay	ic50	0.0100	uM
(3R,4S)-3-amino-1-[(2R)-2-amino-3-phenylpropyl]-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0100	uM
(3R,4S)-3-amino-4-(3-boronopropyl)-1-[[(3R)-morpholin-3-yl]methyl]pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0100	uM
(3R,4S)-3-amino-4-(3-boronopropyl)-1-[[(2R)-pyrrolidin-2-yl]methyl]pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0100	uM
2-amino-6-borono-2-[3-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]propyl]hexanoic acid	1724059: Inhibition of human Arg1 using L-arginine as substrate after 60 mins by spectrophotometric analysis	ki	0.0100	uM
2-amino-6-borono-2-[3-(2-phenylethylamino)propyl]hexanoic acid	1724059: Inhibition of human Arg1 using L-arginine as substrate after 60 mins by spectrophotometric analysis	ki	0.0100	uM
(2S,3R,4R)-4-[[(2S)-2-aminopropanoyl]amino]-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0110	uM
(3R,4S)-3-amino-4-(3-boronopropyl)-1-[[(2S)-pyrrolidin-2-yl]methyl]pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0110	uM
(5S,7S,8S)-8-amino-7-(3-boronopropyl)-1-azaspiro[4.4]nonane-8-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0120	uM
(5R,7S,8S)-8-amino-7-(3-boronopropyl)-2-azaspiro[4.4]nonane-8-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0130	uM
(1S,2S,3aR,4S,5S,6aS)-2-amino-1-(3-boronopropyl)-4-fluoro-5-hydroxy-3,3a,4,5,6,6a-hexahydro-1H-pentalene-2-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0140	uM
(1S,2S,3aR,4S,5S,6aS)-2-amino-1-(3-boronopropyl)-4-fluoro-5-(methylamino)-3,3a,4,5,6,6a-hexahydro-1H-pentalene-2-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0140	uM
trans-(1S,2S)-1-amino-2-(3-boronopropyl)cyclopentane-1-carboxylic acid	1649069: Inhibition of human arginase1 in presence of DNTB by thio ornithine generation assay	ic50	0.0140	uM
(2S,3R)-3-(3-boronopropyl)pyrrolidine-2-carboxylic acid	1780111: Inhibition of human recombinant ARG1 expressed in Escherichia coli using thioarginine as a substrate preincubated for 30 mins followed by substrate addition and incubated for 60 mins by fluorescence based arginine thio ornithine generating assay	ic50	0.0160	uM
(3R,4S)-3-amino-1-[(2R)-2-aminopropyl]-4-(3-boronopropyl)pyrrolidine-3-carboxylic acid	1540248: Inhibition of human recombinant arginase 1 expressed in Escherichia coli BL21 (DE3) assessed as reduction in urea production using L-arginine as substrate in presence of MnSO4 incubated for 60 mins by o-phthaldialdehyde/N-(1-naphthyl)ethylene-diamine dihydrochloride reagent based colorimetric assay	ic50	0.0160	uM

CTD chemical–gene interactions

103 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	6
perfluorooctane sulfonic acid	decreases expression, increases expression	5
Benzo(a)pyrene	increases expression, decreases reaction, decreases expression	5
Aflatoxin B1	decreases expression, decreases methylation, affects expression	5
Acetaminophen	affects cotreatment, decreases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	3
perfluorooctanoic acid	decreases expression, increases expression	2
2-amino-6-boronohexanoic acid	affects binding, decreases activity	2
Valproic Acid	decreases expression	2
Palmitic Acid	affects cotreatment, affects expression, decreases expression	2
cyclopamine	increases expression	1
fluxapyroxad	decreases expression	1
GSK-J4	increases expression	1
ethoprop	decreases expression	1
lasiocarpine	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
carbendazim	decreases expression	1
bisphenol A	affects expression	1
sodium arsenate	decreases expression, increases abundance	1
VX-agent	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
enilconazole	decreases expression	1
sodium arsenite	decreases expression	1
potassium bromate	decreases expression	1
ochratoxin A	decreases expression	1
hydroquinone	increases expression	1
boric acid	decreases activity	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	decreases expression	1

ChEMBL screening assays

90 unique, capped per target: 86 binding, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1104707	Binding	Competitive inhibition of human recombinant arginase 1 by Lineweaver-Burke plot analysis	2-aminoimidazole amino acids as inhibitors of the binuclear manganese metalloenzyme human arginase I. — J Med Chem
CHEMBL5723269	Functional	Affinity Biochemical interaction: (Spectrophotometric assay, cleavage of L-arginine detected spectrophotometrically or by detecting [13C]ornithine from [13C]arginine by mass spectrometry) EUB0002667aCl ARG1	Affinity Biochemical Literature for EUbOPEN Chemogenomic Library

Cellosaurus cell lines

6 cell lines: 4 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B7V6	Abcam Hep-G2 ARG1 KO	Cancer cell line	Male
CVCL_F1P7	HyCyte HCT 15 KO-hARG1	Cancer cell line	Male
CVCL_V033	GM23407	Transformed cell line	Female
CVCL_V034	GM23409	Transformed cell line	Female
CVCL_YN88	Hep-G2/C3A-hARG1	Cancer cell line	Male
CVCL_YN89	Hep-G2/C3A-hARG1/hOTC	Cancer cell line	Male

Clinical trials (associated diseases)

11 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03921541	PHASE3	COMPLETED	Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency
NCT05676853	PHASE3	TERMINATED	A Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 Deficiency
NCT03378531	PHASE2	COMPLETED	A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency
NCT02488044	PHASE1/PHASE2	COMPLETED	A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
NCT01421888	Not specified	TERMINATED	The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04612764	Not specified	ACTIVE_NOT_RECRUITING	Liver Disease in Urea Cycle Disorders
NCT04908319	Not specified	RECRUITING	Hepatic Histopathology in Urea Cycle Disorders
NCT05412160	Not specified	COMPLETED	Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan