SLC25A13

Summary

SLC25A13 (solute carrier family 25 member 13, HGNC:10983) is a protein-coding gene on chromosome 7q21.3, encoding Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (Q9UJS0). Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle.

This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10165 — RefSeq curated summary.

At a glance

• Gene–disease (curated): citrin deficiency (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 991 total — 102 pathogenic, 91 likely-pathogenic
• Phenotypes (HPO): 97
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_014251

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10983
Approved symbol	SLC25A13
Name	solute carrier family 25 member 13
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	CITRIN, ARALAR2
Ensembl gene	ENSG00000004864
Ensembl biotype	protein_coding
OMIM	603859
Entrez	10165

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 11 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000265631, ENST00000416240, ENST00000472162, ENST00000484495, ENST00000487710, ENST00000490072, ENST00000492869, ENST00000494085, ENST00000856214, ENST00000856215, ENST00000856216, ENST00000856217, ENST00000856218, ENST00000856219, ENST00000856220, ENST00000935610, ENST00000948397

RefSeq mRNA: 2 — MANE Select: NM_014251 NM_001160210, NM_014251

CCDS: CCDS55130, CCDS5645

Canonical transcript exons

ENST00000265631 — 18 exons

Exon	Start	End
ENSE00000434479	96121839	96121997
ENSE00000706276	96189581	96189674
ENSE00000706278	96189294	96189378
ENSE00000706287	96146556	96146696
ENSE00000706291	96131743	96131881
ENSE00000706328	96121655	96121745
ENSE00001086808	96234802	96234917
ENSE00001086811	96193037	96193183
ENSE00001086812	96191109	96191247
ENSE00001830180	96321942	96322098
ENSE00001937967	96120220	96121377
ENSE00003511749	96184927	96185011
ENSE00003541165	96296898	96296951
ENSE00003595842	96277196	96277338
ENSE00003634171	96208838	96208977
ENSE00003635702	96171472	96171524
ENSE00003650302	96170045	96170125
ENSE00003668357	96184277	96184435

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 95.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7957 / max 325.6449, expressed in 1798 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84995	17.8837	1793
84996	0.9646	674
84994	0.4754	235
84990	0.4719	151

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	95.60	gold quality
liver	UBERON:0002107	95.52	gold quality
secondary oocyte	CL:0000655	94.95	gold quality
pigmented layer of retina	UBERON:0001782	93.89	gold quality
retina	UBERON:0000966	93.86	gold quality
tibia	UBERON:0000979	92.79	gold quality
adrenal tissue	UBERON:0018303	92.14	gold quality
corpus callosum	UBERON:0002336	91.76	gold quality
buccal mucosa cell	CL:0002336	91.39	gold quality
choroid plexus epithelium	UBERON:0003911	91.26	gold quality
calcaneal tendon	UBERON:0003701	91.08	gold quality
endometrium epithelium	UBERON:0004811	90.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.30	gold quality
esophagus squamous epithelium	UBERON:0006920	89.95	gold quality
inferior vagus X ganglion	UBERON:0005363	89.92	gold quality
nephron tubule	UBERON:0001231	89.71	gold quality
rectum	UBERON:0001052	89.33	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.18	gold quality
oocyte	CL:0000023	89.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.38	gold quality
spinal cord	UBERON:0002240	88.30	gold quality
sperm	CL:0000019	88.16	gold quality
jejunal mucosa	UBERON:0000399	88.12	gold quality
squamous epithelium	UBERON:0006914	88.12	gold quality
skin of leg	UBERON:0001511	88.09	gold quality
right adrenal gland cortex	UBERON:0035827	88.04	gold quality
right uterine tube	UBERON:0001302	87.92	gold quality
visceral pleura	UBERON:0002401	87.69	gold quality
transverse colon	UBERON:0001157	87.68	gold quality
monocyte	CL:0000576	87.54	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	246.31
E-ANND-3	yes	8.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting SLC25A13, 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-3120-5P	100.00	65.56	965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-3681-5P	99.82	66.88	387
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6849-5P	99.64	66.00	352
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-183-3P	99.41	69.41	1598

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• 851del4/1638ins23 mutations in a Chinese adult onset type II citrullinaemia patient (PMID:11432966)
• genetic screening of mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations (PMID:11793471)
• Adult-onset type II citrullinemia is caused by mutations of the SLC25A13 gene (PMID:12111366)
• Adult-onset type II citrullinemia is caused by mutations of the SLC25A13 gene (PMID:16278034)
• Adult-onset type II citrullinemia is caused by mutations of the SLC25A13 gene (PMID:16928234)
• Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. (PMID:17000460)
• Analysis of citrin protein in peripheral blood lymphocytes is useful to diagnose citrin deficiency in patients without known mutations or hypercitrullinemia. (PMID:17092749)
• This report describes the clinical characteristics, biochemical findings and molecular analysis of the SLC25A13 gene of patients with citrin deficiency in Korea. (PMID:17982687)
• report 13 novel SLC25A13 mutations (one insertion, two deletion, three splice site, two nonsense, and five missense) in patients with citrin deficiency from Japan, Israel, UK, and Czech Republic (PMID:18392553)
• SLC25A13 gene mutations exist in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids. (PMID:18578996)
• Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, caused by SLC25A13 gene mutations. (PMID:18620775)
• Case Report: suggest that the administration of arginine and sodium pyruvate with low-carbohydrate meals may be an effective therapy in patients with citrin deficiency. (PMID:18958581)
• 5 novel mutations were found in SLC25A13 from three unrelated French-Canadian Citrin deficiency patients. (PMID:19036621)
• Results of this study showed, even during the silent period, sustained hypercitrullinemia, hypercholesterolemia, and augmented oxidative stress in children with citrin deficiency. (PMID:19232506)
• The first two cases of NICCD are described in infants from the UK, one of Caucasian and one of Pakistani origin. (PMID:19517266)
• The historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis, is described. (PMID:20233664)
• The 851del4, 1638ins23 and IVS6+5G>A mutations are the hot-spot mutations in Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency. (PMID:20376801)
• Four hundred infants with unexplained intrahepatic cholestasis from 18 China were studied for detecting SLC25A13 gene mutation 851del4. Eight homozygous and 30 heterozygous mutations were detected in 46 mutant alleles with a 851del4 mutation rate of 5.8%. (PMID:20458766)
• We report three unrelated Malay children with genetically confirmed neonatal intrahepatic cholestatic caused by citrin deficiency characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene (PMID:20614727)
• MDR analysis provided evidence of interaction between the genes for ASS1 and SLC25A13 on the risk of CL/P. (PMID:20739017)
• SLC25A13 gene mutations play an important role in Chinese infants with intrahepatic cholestasis and various forms of aminoacidemia; 851del4 and 1638ins23 are the most common mutation types (PMID:20927635)
• The SLC25A13 mutations may not be a major contributor to the pathogenesis of hepatocellular carcinoma in Taiwan. (PMID:21134364)
• this study expanded the genotypic and phenotypic spectrum of citrin deficiency. (PMID:21424115)
• individuals with non-viral HCC were more likely to possess SLC25A13 gene mutations compared to healthy subjects (PMID:21470889)
• Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified (PMID:21507300)
• Functional studies, carried out on the recombinant mutant protein containing glutamate at position 437, demonstrated that neonatal intrahepatic cholestasis caused by citrin deficiency is caused by a reduced transport activity of SLC25A13 (PMID:21914561)
• Mutations in SLC25A13 are associated with citrin deficiency. (PMID:22277121)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• In 171 suspected patients, seven neonatal intrahepatic cholestasis caused by citrin deficiency patients were detected by HRM. (PMID:22487826)
• uncovered the marked transcript diversity of SLC25A13 gene in human PBLs, and suggested that cDNA cloning analysis of this gene in human PBLs might be a feasible tool for CD molecular diagno (PMID:23022256)
• Analysis of the SLC25A13 gene sequence. (PMID:23053473)
• The objectives were to study the prevalence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants with idiopathic cholestasis, mutation spectrum of SLC25A13 in Thai NICCD, and comparison of clinical manifestations and blood chemistry between NICCD and non-NICCD infants. (PMID:23067347)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis. (PMID:23901231)
• Identification of novel SLC25A13 gene mutations in East Asian patients with citrin deficiency. (PMID:24069319)
• Report frequency SLC25A13 mutations in the Thai population and estimate prevalence of citrin deficiency. (PMID:24282362)
• we reviewed the English literature on mutations in the SLC25A13 gene, and its genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia–{REVIEW} (PMID:24508627)
• Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia. (PMID:24927999)
• This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong. (PMID:25110155)
• Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel. (PMID:25365849)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a13	ENSDARG00000099353
mus_musculus	Slc25a13	ENSMUSG00000015112
rattus_norvegicus	Slc25a13	ENSRNOG00000009957

Paralogs (49): SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial — Q9UJS0 (reviewed: Q9UJS0)

Alternative names: Calcium-binding mitochondrial carrier protein Aralar2, Citrin, Mitochondrial aspartate glutamate carrier 2, Solute carrier family 25 member 13

All UniProt accessions (2): Q9UJS0, R4GN64

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle. Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction. Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange for L-glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation. Lacks transport activity towards gamma-aminobutyric acid (GABA).

Subunit / interactions. Homodimer (via N-terminus).

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.

Disease relevance. Citrin deficiency, adolescent or adult onset (CDAA) [MIM:603471] An autosomal recessive metabolic disorder characterized by elevated serum and urine citrulline levels, ammonia intoxication, and neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. The disease is caused by variants affecting the gene represented in this entry. Citrin deficiency, neonatal or infantile onset (CDNI) [MIM:605814] An autosomal recessive metabolic disorder characterized by increased serum citrulline, poor growth, and neonatal intrahepatic cholestasis with suppression of the bile flow, hepatic fibrosis and variable liver dysfunction. Most patients show spontaneous improvement of symptoms by 1 year of age. However, some affected individuals may develop chronic or fatal liver disease. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by calcium-binding in the mitochondrial intermembrane space. Inhibited by pyridoxal 5’-phosphate, bathophenathroline, mercurials, diethyl pyrocarbonate and N-ethylmaleimide.

Domain organisation. The EF-hand 2 domain within the regulatory N-terminal domain binds one calcium in the mitochondrial intermembrane space. Calcium triggers the binding of the regulatory N-terminal domain to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain. In the absence of calcium, the linker loop domain may close the vestibule and prevent substrates from entering the carrier domain.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJS0-1	1	yes
Q9UJS0-2	2

RefSeq proteins (2): NP_001153682, NP_055066* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR002067	MCP	Family
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR051028	Mito_Solute_Carrier	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 3 shown:

• L-aspartate(in) + L-glutamate(out) + H(+)(out) = L-aspartate(out) + L-glutamate(in) + H(+)(in) (RHEA:70783)
• 3-sulfino-L-alanine(out) + L-glutamate(in) + H(+)(in) = 3-sulfino-L-alanine(in) + L-glutamate(out) + H(+)(out) (RHEA:70967)
• 3-sulfino-L-alanine(out) + L-aspartate(in) = 3-sulfino-L-alanine(in) + L-aspartate(out) (RHEA:70975)

UniProt features (100 total): mutagenesis site 26, helix 20, modified residue 9, topological domain 7, transmembrane region 6, strand 6, binding site 5, domain 4, region of interest 4, repeat 3, sequence variant 3, sequence conflict 2, turn 2, initiator methionine 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4P5W	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJS0-F1	83.09	0.36

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 (5): 66; 68; 70; 72; 77

Post-translational modifications (9): 2, 353, 372, 453, 484, 484, 580, 662, 666

Mutagenesis-validated functional residues (26):

Position	Phenotype
25	reduces transporter activity.
39	no effect on mitochondrial localization.
66	does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with a-68, a
68	does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with a-66, a
70	does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with a-66, a
74	slightly reduces transporter activity.
77	does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with a-66, a
85	increases transporter activity.
95	reduces transporter activity.
139	reduces transporter activity.
176	reduces transporter activity.
350	reduces transporter activity.
355	reduces transporter activity.
393	reduces transporter activity.
405	abolishes transporter activity.
453	slightly reduces transporter activity.
455	abolishes transporter activity.
489	abolishes transporter activity.
493	abolishes transporter activity.
500	primarily cytoplasmic.
531	reduces transporter activity.
546	abolishes transporter activity.
585	abolishes transporter activity.
588	reduces mitochondrial localization.
588	abolishes transporter activity.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
R-HSA-8963693	Aspartate and asparagine metabolism
R-HSA-9856872	Malate-aspartate shuttle
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-611105	Respiratory electron transport
R-HSA-71291	Metabolism of amino acids and derivatives
R-HSA-9609507	Protein localization

MSigDB gene sets: 443 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, SHIPP_DLBCL_CURED_VS_FATAL_DN, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION

GO Biological Process (12): gluconeogenesis (GO:0006094), ATP biosynthetic process (GO:0006754), mitochondrial transport (GO:0006839), aspartate transmembrane transport (GO:0015810), L-glutamate transmembrane transport (GO:0015813), malate-aspartate shuttle (GO:0043490), cellular respiration (GO:0045333), response to calcium ion (GO:0051592), neutral amino acid transport (GO:0015804), transmembrane transport (GO:0055085), L-aspartate transmembrane transport (GO:0070778), proton transmembrane transport (GO:1902600)

GO Molecular Function (9): 3-sulfino-L-alanine: proton, glutamate antiporter activity (GO:0000514), aspartate:glutamate, proton antiporter activity (GO:0000515), L-glutamate transmembrane transporter activity (GO:0005313), calcium ion binding (GO:0005509), L-aspartate transmembrane transporter activity (GO:0015183), identical protein binding (GO:0042802), protein binding (GO:0005515), acidic amino acid transmembrane transporter activity (GO:0015172), metal ion binding (GO:0046872)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Metabolism	2
Protein localization	1
Metabolism of amino acids and derivatives	1
Respiratory electron transport	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
L-amino acid transmembrane transporter activity	3
acidic amino acid transport	2
L-alpha-amino acid transmembrane transport	2
dicarboxylic acid transmembrane transporter activity	2
acidic amino acid transmembrane transporter activity	2
glucose metabolic process	1
hexose biosynthetic process	1
purine ribonucleotide biosynthetic process	1
purine ribonucleoside triphosphate biosynthetic process	1
ATP metabolic process	1
intracellular transport	1
amino acid transmembrane transport	1
C4-dicarboxylate transport	1
nitrogen compound transport	1
carboxylic acid transmembrane transport	1
L-glutamate import	1
L-aspartate:2-oxoglutarate transaminase activity	1
NAD+ metabolic process	1
L-malate dehydrogenase (NAD+) activity	1
mitochondrial transmembrane transport	1
energy derivation by oxidation of organic compounds	1
response to metal ion	1
amino acid transport	1
transport	1
cellular process	1
aspartate transmembrane transport	1
monoatomic cation transmembrane transport	1
sulfur amino acid transmembrane transporter activity	1
proton transmembrane transporter activity	1
neutral L-amino acid transmembrane transporter activity	1
modified amino acid transmembrane transporter activity	1
amino acid:monoatomic cation antiporter activity	1
L-aspartate transmembrane transporter activity	1
L-glutamate:proton antiporter activity	1
L-glutamate transmembrane transport	1
metal ion binding	1
C4-dicarboxylate transmembrane transporter activity	1
L-aspartate transmembrane transport	1
protein binding	1
binding	1

Protein interactions and networks

STRING

1370 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A13	ASS1	P00966	946
SLC25A13	TIMM13	P62206	928
SLC25A13	TIMM8A	O60220	872
SLC25A13	TIMM23	O14925	856
SLC25A13	TIMM9	Q9Y5J7	717
SLC25A13	TIMM10	P62072	656
SLC25A13	NAGS	Q8N159	609
SLC25A13	RALGAPB	Q86X10	547
SLC25A13	SLC25A11	Q02978	536
SLC25A13	MTCH1	Q9NZJ7	529
SLC25A13	TIMM22	Q9Y584	519
SLC25A13	MCU	Q8NE86	508
SLC25A13	ASL	P04424	507
SLC25A13	OTC	P00480	506
SLC25A13	MIMS1	Q96ND0	505

IntAct

178 interactions, top by confidence:

A	B	Type	Score
IKBKB	CHUK	psi-mi:“MI:0914”(association)	0.960
RAD51D	RAD51B	psi-mi:“MI:0914”(association)	0.850
CTSV	CTSL	psi-mi:“MI:0914”(association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
SLC25A13	SLC25A12	psi-mi:“MI:0915”(physical association)	0.690
TIMM10	AGK	psi-mi:“MI:0914”(association)	0.640
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
IRAK1	SEC16A	psi-mi:“MI:0914”(association)	0.530
COQ2	SLC25A5	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
TUBA1A	TUBAL3	psi-mi:“MI:0914”(association)	0.420
SLC25A13	APOD	psi-mi:“MI:0915”(physical association)	0.400
KLK10	SLC25A13	psi-mi:“MI:0915”(physical association)	0.400
AATK	DPM1	psi-mi:“MI:0914”(association)	0.350
ARAF	PPP6C	psi-mi:“MI:0914”(association)	0.350
LIMK2	CALU	psi-mi:“MI:0914”(association)	0.350
SIK2	BAG2	psi-mi:“MI:0914”(association)	0.350
OTUB1		psi-mi:“MI:0914”(association)	0.350
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (347): SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS), ELAVL1 (Co-fractionation), IMMT (Co-fractionation), SLC25A13 (Affinity Capture-MS), SLC25A13 (Affinity Capture-MS)

ESM2 similar proteins: A2ASZ8, A2CEQ0, A5PJZ1, B4F8I5, B8ZHC9, F1LX07, F1LZW6, F4HW79, F4JU70, K7VYZ9, O13805, O18757, O65023, O75746, P0C546, Q05AQ3, Q0P483, Q0V7M4, Q19529, Q20799, Q21153, Q5PQ27, Q5RBC8, Q5XH95, Q5XHA0, Q628Z2, Q66L49, Q6C107, Q6GQS1, Q6KCM7, Q6NUK1, Q6NYZ6, Q7T0U6, Q7ZY36, Q7ZYD5, Q86VD7, Q8BH59, Q8BMD8, Q8BVN7, Q8HXW2

Diamond homologs: A0A0G2K5L2, A2ADF7, A4QNX2, B0G143, F1LX07, F1LZW6, F1RFX9, O13844, O43772, O75746, P16261, P39953, Q02978, Q08DK4, Q0II44, Q12482, Q1DRJ3, Q21153, Q26365, Q3KQZ1, Q3TZX3, Q4V8K4, Q505J6, Q54QN2, Q54RB9, Q552L9, Q58DS3, Q5B717, Q5RBC8, Q5RD81, Q5SWT3, Q5XIF9, Q5ZKP7, Q66L49, Q68F18, Q6ZT89, Q75AH6, Q7PQV7, Q86AV5, Q8BH59

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
calcium(2+)	“up-regulates activity”	SLC25A13	“chemical activation”
SLC25A13	“down-regulates quantity”	“glutamic acid”	relocalization
SLC25A13	“up-regulates quantity”	“aspartic acid”	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 212 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Resolution of D-loop Structures through Holliday Junction Intermediates	6	12.1×	4e-03
Homology Directed Repair	5	10.4×	7e-03
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	5	10.4×	7e-03
TAK1-dependent IKK and NF-kappa-B activation	5	10.1×	7e-03
Selective autophagy	5	9.3×	7e-03
Adherens junctions interactions	5	8.3×	9e-03
DNA Double-Strand Break Repair	5	8.3×	9e-03
Aggrephagy	5	8.3×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
pre-miRNA processing	5	31.2×	5e-04
obsolete protein targeting to mitochondrion	5	16.1×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	102
Likely pathogenic	91
Uncertain significance	237
Likely benign	419
Benign	34

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068567	NM_014251.3(SLC25A13):c.420del (p.Glu141fs)	Pathogenic
1069861	NC_000007.13:g.(?95906498)(95906660_?)del	Pathogenic
1070090	NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter)	Pathogenic
1070408	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC	Pathogenic
1071593	NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter)	Pathogenic
1071972	NC_000007.13:g.(?95838140)(95838299_?)del	Pathogenic
1071973	NC_000007.13:g.(?95761045)(95761203_?)dup	Pathogenic
1073569	NM_014251.3(SLC25A13):c.792del (p.Thr265fs)	Pathogenic
1075398	NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)	Pathogenic
1075399	NM_014251.3(SLC25A13):c.173_174del (p.Val58fs)	Pathogenic
1351050	NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs)	Pathogenic
1359671	NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs)	Pathogenic
1361197	NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs)	Pathogenic
1366582	NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter)	Pathogenic
1379532	NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer)	Pathogenic
1382583	NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs)	Pathogenic
1385282	NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer)	Pathogenic
1386444	NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter)	Pathogenic
1388183	NM_014251.3(SLC25A13):c.1453-2A>T	Pathogenic
1401121	NM_014251.3(SLC25A13):c.848+1G>A	Pathogenic
1405696	NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)	Pathogenic
1408381	NM_014251.3(SLC25A13):c.124del (p.Thr42fs)	Pathogenic
1420534	NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs)	Pathogenic
1425711	NM_014251.3(SLC25A13):c.111del (p.Asn38fs)	Pathogenic
1451917	NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)	Pathogenic
1453939	NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter)	Pathogenic
1458599	NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter)	Pathogenic
1458843	NC_000007.13:g.(?95812693)(95813744_?)del	Pathogenic
1459235	NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)	Pathogenic
1459776	NC_000007.13:g.(?95749522)(95751319_?)del	Pathogenic

SpliceAI

4311 predictions. Top by Δscore:

Variant	Effect	Δscore
7:96121374:TTTT:T	acceptor_gain	1.0000
7:96121375:TTT:T	acceptor_gain	1.0000
7:96121376:TT:T	acceptor_gain	1.0000
7:96121376:TTCTA:T	acceptor_loss	1.0000
7:96121377:TC:T	acceptor_loss	1.0000
7:96121378:C:CC	acceptor_gain	1.0000
7:96121379:T:C	acceptor_loss	1.0000
7:96121646:GATAC:G	donor_loss	1.0000
7:96121649:AC:A	donor_loss	1.0000
7:96121650:CT:C	donor_loss	1.0000
7:96121651:TTAC:T	donor_loss	1.0000
7:96121652:TACAC:T	donor_loss	1.0000
7:96121653:A:AC	donor_gain	1.0000
7:96121653:A:C	donor_loss	1.0000
7:96121653:ACACT:A	donor_gain	1.0000
7:96121654:C:CA	donor_gain	1.0000
7:96121654:CA:C	donor_gain	1.0000
7:96121654:CACT:C	donor_gain	1.0000
7:96121654:CACTC:C	donor_gain	1.0000
7:96121742:CGAG:C	acceptor_gain	1.0000
7:96121746:C:CC	acceptor_gain	1.0000
7:96121747:T:C	acceptor_gain	1.0000
7:96121748:T:C	acceptor_gain	1.0000
7:96121748:T:TC	acceptor_gain	1.0000
7:96121834:CATA:C	donor_loss	1.0000
7:96121835:ATACC:A	donor_loss	1.0000
7:96121836:TA:T	donor_loss	1.0000
7:96121838:CCA:C	donor_gain	1.0000
7:96121847:C:CA	donor_gain	1.0000
7:96121851:T:TA	donor_gain	1.0000

AlphaMissense

4364 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:96121717:A:C	F593L	1.000
7:96121717:A:T	F593L	1.000
7:96121719:A:G	F593L	1.000
7:96121894:G:C	C565W	1.000
7:96121954:C:A	K545N	1.000
7:96121954:C:G	K545N	1.000
7:96121965:C:G	D542H	1.000
7:96131856:T:G	D493A	1.000
7:96131857:C:G	D493H	1.000
7:96146649:C:A	K453N	1.000
7:96146649:C:G	K453N	1.000
7:96146667:A:C	N447K	1.000
7:96146667:A:T	N447K	1.000
7:96184277:C:G	G393R	1.000
7:96184323:A:C	C377W	1.000
7:96184383:C:A	Q357H	1.000
7:96184383:C:G	Q357H	1.000
7:96184395:T:A	K353N	1.000
7:96184395:T:G	K353N	1.000
7:96184402:A:G	L351P	1.000
7:96184405:T:C	D350G	1.000
7:96184405:T:G	D350A	1.000
7:96184406:C:G	D350H	1.000
7:96184430:C:G	G342R	1.000
7:96184430:C:T	G342R	1.000
7:96121715:C:T	G594D	0.999
7:96121718:A:C	F593C	0.999
7:96121718:A:G	F593S	0.999
7:96121720:C:A	Q592H	0.999
7:96121720:C:G	Q592H	0.999

dbSNP variants (sampled 300 via entrez): RS1000007122 (7:96295254 C>G), RS1000009566 (7:96122988 C>T), RS1000014049 (7:96152475 G>A), RS1000047320 (7:96309164 C>T), RS1000087678 (7:96159031 T>C), RS1000093526 (7:96288932 T>C,G), RS1000102161 (7:96205292 T>A), RS1000123398 (7:96203911 G>A), RS1000156296 (7:96248035 C>A), RS1000159989 (7:96160438 G>A), RS1000185081 (7:96179031 G>T), RS1000186961 (7:96268025 T>C), RS1000206393 (7:96299975 T>G), RS1000223245 (7:96164767 G>C), RS1000238159 (7:96225383 A>G,T)

Disease associations

OMIM: gene MIM:603859 | disease phenotypes: MIM:215700, MIM:603471, MIM:605814

GenCC curated gene-disease

Disease	Classification	Inheritance
citrullinemia, type II, adult-onset	Strong	Autosomal recessive
neonatal intrahepatic cholestasis due to citrin deficiency	Strong	Autosomal recessive
citrullinemia type II	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
citrin deficiency	Definitive	AR

Mondo (8): citrin deficiency (MONDO:0016602), citrullinemia (MONDO:0015991), citrullinemia, type II, adult-onset (MONDO:0011326), neonatal intrahepatic cholestasis due to citrin deficiency (MONDO:0011601), citrullinemia type II (MONDO:0016603), adult-onset citrullinemia type I (MONDO:0016601), citrullinemia type I (MONDO:0008988), megacolon (MONDO:0001273)

Orphanet (6): Citrin deficiency (Orphanet:247582), Citrullinemia (Orphanet:187), Citrullinemia type II (Orphanet:247585), Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598), Late-onset citrullinemia type I (Orphanet:247573), Citrullinemia type I (Orphanet:247525)

HPO phenotypes

97 total (30 of 97 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000518	Cataract
HP:0000709	Psychosis
HP:0000711	Restlessness
HP:0000718	Aggressive behavior
HP:0000737	Irritability
HP:0000738	Hallucinations
HP:0000746	Delusion
HP:0000752	Hyperactivity
HP:0000805	Enuresis
HP:0000952	Jaundice
HP:0001250	Seizure
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001263	Global developmental delay
HP:0001289	Confusion
HP:0001337	Tremor
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001396	Cholestasis
HP:0001397	Hepatic steatosis
HP:0001402	Hepatocellular carcinoma
HP:0001403	Macrovesicular hepatic steatosis
HP:0001406	Intrahepatic cholestasis
HP:0001414	Microvesicular hepatic steatosis
HP:0001433	Hepatosplenomegaly
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001511	Intrauterine growth retardation
HP:0001531	Failure to thrive in infancy

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007691_29	Femoral neck bone mineral density	8.000000e-48
GCST008163_28	Height	4.000000e-06
GCST010135_40	Oily fish consumption	1.000000e-08
GCST010140_30	Pork consumption	1.000000e-08
GCST012332_84	Multisite chronic pain	6.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007785	femoral neck bone mineral density
EFO:0008111	diet measurement
EFO:0010100	multisite chronic pain

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D020159	Citrullinemia	C10.228.140.163.100.937.374; C16.320.565.100.940.374; C16.320.565.189.937.374; C18.452.132.100.937.374; C18.452.648.100.940.374; C18.452.648.189.937.374
D008531	Megacolon	C06.405.469.158.701
C536398	Neonatal-onset citrullinemia type 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067317 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs768172	SLC25A13		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — Mitochondrial amino acid transporter subfamily

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.93	Kd	1178	nM	CHEMBL3752910
5.93	ED50	1178	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149407: Binding affinity to human SLC25A13 incubated for 45 mins by Kinobead based pull down assay	kd	1.1779	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	6
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	4
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
sodium arsenite	decreases expression, affects binding, increases reaction	2
perfluorooctane sulfonic acid	decreases expression	2
Acetaminophen	decreases expression	2
Cisplatin	decreases reaction, increases expression, decreases expression	2
Aflatoxin B1	affects expression, decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
arsenite	affects expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
torcetrapib	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acrolein	increases oxidation, increases abundance, affects cotreatment	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Atrazine	decreases expression	1
Cannabidiol	decreases expression	1
Clozapine	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652449	Binding	Binding affinity to human SLC25A13 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2FN	Abcam HeLa SLC25A13 KO	Cancer cell line	Female
CVCL_BW47	GM23989	Transformed cell line	Male
CVCL_D4JG	HCT116-SLC25A13-KO-c2	Cancer cell line	Male
CVCL_D4JH	HCT116-SLC25A13-KO-c8	Cancer cell line	Male
CVCL_D9RR	Ubigene HEK293 SLC25A13 KO	Transformed cell line	Female
CVCL_RU03	GM26185	Transformed cell line	Male
CVCL_TM12	HAP1 SLC25A13 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00718627	PHASE2	COMPLETED	Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06895746	Not specified	ACTIVE_NOT_RECRUITING	Multi-omics Study in Citrin Deficiency
NCT07055269	Not specified	ACTIVE_NOT_RECRUITING	Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects
NCT01421888	Not specified	TERMINATED	The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
NCT01610089	Not specified	COMPLETED	Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
NCT04612764	Not specified	ACTIVE_NOT_RECRUITING	Liver Disease in Urea Cycle Disorders
NCT04908319	Not specified	RECRUITING	Hepatic Histopathology in Urea Cycle Disorders
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT04340856	Not specified	COMPLETED	Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon
NCT07470892	Not specified	NOT_YET_RECRUITING	Preoperative Fish Oil PN and Prognosis After Constipation Surgery