APRT

Summary

APRT (adenine phosphoribosyltransferase, HGNC:626) is a protein-coding gene on chromosome 16q24.3, encoding Adenine phosphoribosyltransferase (P07741). Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 353 — RefSeq curated summary.

At a glance

• Gene–disease (curated): adenine phosphoribosyltransferase deficiency (Definitive, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 222 total — 56 pathogenic, 24 likely-pathogenic
• GTEx eGene: eQTL in 46 tissues, sQTL in 36 (q < 0.05)
• Phenotypes (HPO): 28
• ChEMBL bioactivity: 1 clinical-phase molecule tested; no curated mechanism-of-action drug
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.79 (unconstrained)
• MANE Select transcript: NM_000485
• Interaction hub: 3,125 STRING partners (top 2% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:626
Approved symbol	APRT
Name	adenine phosphoribosyltransferase
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198931
Ensembl biotype	protein_coding
OMIM	102600
Entrez	353

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 21 protein_coding, 7 nonsense_mediated_decay, 4 retained_intron

MANE Select: ENST00000378364

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 4, TSL 3: 3, TSL 5: 3

ENST00000378364, ENST00000426324, ENST00000562464, ENST00000563655, ENST00000564858, ENST00000567057, ENST00000567391, ENST00000567713, ENST00000568319, ENST00000568575, ENST00000569616, ENST00000880214, ENST00000880215, ENST00000912467, ENST00000912468, ENST00000912469, ENST00000912470, ENST00000912471, ENST00000912472, ENST00000912473, ENST00000974599, ENST00001041525, ENST00001068262, ENST00001068263, ENST00001068266, ENST00001068267, ENST00001068268, ENST00001068273, ENST00001068277, ENST00001068278, ENST00001068283, ENST00001140439

RefSeq mRNA: 2 — MANE Select: NM_000485 NM_000485, NM_001030018

CCDS: CCDS32511, CCDS45546

Canonical transcript exons

ENST00000378364 — 5 exons

Exon	Start	End
ENSE00001503917	88810423	88810556
ENSE00001503918	88811550	88811656
ENSE00002584924	88809339	88809840
ENSE00002599163	88811820	88811928
ENSE00003473485	88810070	88810148

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 98.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 117.1645 / max 545.9404, expressed in 1823 samples.

Highest expression (Bgee): skin of abdomen, skin of leg, lower esophagus mucosa, granulocyte, mucosa of transverse colon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

APRT is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 46 tissues and its splicing (sQTL) in 36 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 82 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Not Sun Exposed Suprapubic	sqtl	1.8e-29	-1.56	16:88809297:G:A
Muscle Skeletal	eqtl	1.8e-26	-0.48	16:88811949:G:T
Skin Sun Exposed Lower leg	sqtl	2.8e-25	-1.29	16:88809297:G:A
Artery Tibial	eqtl	9.2e-24	-0.38	16:88811949:G:T
Nerve Tibial	eqtl	8.4e-22	-0.34	16:88811949:G:T
Adipose Subcutaneous	eqtl	1.0e-20	-0.40	16:88811949:G:T
Esophagus Mucosa	sqtl	1.2e-19	-1.81	16:88809297:G:A
Whole Blood	eqtl	1.2e-19	-0.59	16:88862191:C:G
Adipose Subcutaneous	sqtl	1.6e-19	-1.29	16:88809297:G:A
Cells Cultured fibroblasts	sqtl	6.7e-19	-1.35	16:88809297:G:A
Esophagus Muscularis	eqtl	1.8e-17	-0.43	16:88811949:G:T
Artery Aorta	eqtl	2.8e-17	-0.42	16:88811949:G:T
Lung	eqtl	6.2e-17	-0.31	16:88811949:G:T
Skin Sun Exposed Lower leg	eqtl	6.7e-17	-0.26	16:88811949:G:T
Heart Left Ventricle	eqtl	1.8e-16	-0.51	16:88811949:G:T
Thyroid	eqtl	2.5e-16	-0.33	16:88811949:G:T
Muscle Skeletal	sqtl	6.0e-15	-1.36	16:88809297:G:A
Cells EBV-transformed lymphocytes	eqtl	1.3e-14	-1.21	16:88862191:C:G
Skin Not Sun Exposed Suprapubic	eqtl	2.4e-14	-0.69	16:88812826:G:A
Brain Caudate basal ganglia	eqtl	6.1e-14	-0.57	16:88811949:G:T

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
158581	116.4593	1823
158580	0.7052	337

Top tissues by expression

showing 100 of 295 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	98.73	gold quality
skin of leg	UBERON:0001511	98.72	gold quality
lower esophagus mucosa	UBERON:0035834	98.63	gold quality
granulocyte	CL:0000094	98.59	gold quality
mucosa of transverse colon	UBERON:0004991	98.31	gold quality
body of pancreas	UBERON:0001150	98.26	gold quality
right adrenal gland	UBERON:0001233	98.25	gold quality
esophagus mucosa	UBERON:0002469	98.23	gold quality
right adrenal gland cortex	UBERON:0035827	98.11	gold quality
left adrenal gland cortex	UBERON:0035825	98.10	gold quality
left adrenal gland	UBERON:0001234	98.09	gold quality
body of stomach	UBERON:0001161	97.94	gold quality
adrenal cortex	UBERON:0001235	97.82	gold quality
zone of skin	UBERON:0000014	97.80	gold quality
transverse colon	UBERON:0001157	97.59	gold quality
minor salivary gland	UBERON:0001830	97.59	gold quality
right lobe of liver	UBERON:0001114	97.58	gold quality
endometrium epithelium	UBERON:0004811	97.57	gold quality
right lobe of thyroid gland	UBERON:0001119	97.50	gold quality
left lobe of thyroid gland	UBERON:0001120	97.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.29	gold quality
esophagus	UBERON:0001043	97.26	gold quality
left uterine tube	UBERON:0001303	97.26	gold quality
mouth mucosa	UBERON:0003729	97.25	gold quality
adrenal gland	UBERON:0002369	97.24	gold quality
ectocervix	UBERON:0012249	97.21	gold quality
spleen	UBERON:0002106	97.19	gold quality
omental fat pad	UBERON:0010414	97.16	gold quality
peritoneum	UBERON:0002358	97.13	gold quality
metanephros cortex	UBERON:0010533	97.05	gold quality
endocervix	UBERON:0000458	97.03	gold quality
left coronary artery	UBERON:0001626	97.00	gold quality
saliva-secreting gland	UBERON:0001044	96.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.98	gold quality
right uterine tube	UBERON:0001302	96.91	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.91	gold quality
thyroid gland	UBERON:0002046	96.80	gold quality
coronary artery	UBERON:0001621	96.73	gold quality
upper lobe of left lung	UBERON:0008952	96.71	gold quality
lymph node	UBERON:0000029	96.69	gold quality
stomach	UBERON:0000945	96.67	gold quality
body of uterus	UBERON:0009853	96.64	gold quality
vagina	UBERON:0000996	96.57	gold quality
monocyte	CL:0000576	96.46	gold quality
cervix squamous epithelium	UBERON:0006922	96.46	gold quality
leukocyte	CL:0000738	96.44	gold quality
right ovary	UBERON:0002118	96.40	gold quality
small intestine	UBERON:0002108	96.32	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.30	gold quality
mononuclear cell	CL:0000842	96.29	gold quality
left ovary	UBERON:0002119	96.26	gold quality
tibial nerve	UBERON:0001323	96.22	gold quality
gingival epithelium	UBERON:0001949	96.22	gold quality
lower esophagus	UBERON:0013473	96.21	gold quality
adenohypophysis	UBERON:0002196	96.20	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.20	gold quality
mucosa of stomach	UBERON:0001199	96.19	gold quality
tonsil	UBERON:0002372	96.19	gold quality
upper lobe of lung	UBERON:0008948	96.19	gold quality
right lung	UBERON:0002167	96.15	gold quality
right coronary artery	UBERON:0001625	96.14	gold quality
ascending aorta	UBERON:0001496	96.02	gold quality
thoracic aorta	UBERON:0001515	96.02	gold quality
fundus of stomach	UBERON:0001160	95.89	gold quality
nipple	UBERON:0002030	95.73	gold quality
blood	UBERON:0000178	95.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.61	gold quality
gingiva	UBERON:0001828	95.60	gold quality
apex of heart	UBERON:0002098	95.57	gold quality
prostate gland	UBERON:0002367	95.56	gold quality
aorta	UBERON:0000947	95.50	gold quality
right atrium auricular region	UBERON:0006631	95.49	gold quality
stromal cell of endometrium	CL:0002255	95.48	gold quality
descending thoracic aorta	UBERON:0002345	95.46	gold quality
colon	UBERON:0001155	95.39	gold quality
liver	UBERON:0002107	95.26	gold quality
penis	UBERON:0000989	95.25	gold quality
pituitary gland	UBERON:0000007	95.23	gold quality
tibial artery	UBERON:0007610	95.22	gold quality
popliteal artery	UBERON:0002250	95.21	gold quality
large intestine	UBERON:0000059	95.20	gold quality
tendon of biceps brachii	UBERON:0008188	95.20	gold quality
vermiform appendix	UBERON:0001154	95.19	gold quality
intestine	UBERON:0000160	95.13	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.11	gold quality
uterine cervix	UBERON:0000002	95.01	gold quality
caecum	UBERON:0001153	94.95	gold quality
mammalian vulva	UBERON:0000997	94.86	gold quality
adipose tissue	UBERON:0001013	94.84	gold quality
upper arm skin	UBERON:0004263	94.70	gold quality
buccal mucosa cell	CL:0002336	94.61	silver quality
adult mammalian kidney	UBERON:0000082	94.48	gold quality
connective tissue	UBERON:0002384	94.46	gold quality
pharyngeal mucosa	UBERON:0000355	94.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.37	gold quality
pancreas	UBERON:0001264	94.33	gold quality
rectum	UBERON:0001052	94.27	gold quality
periodontal ligament	UBERON:0008266	94.27	gold quality
sigmoid colon	UBERON:0001159	94.22	gold quality
nasal cavity mucosa	UBERON:0001826	94.19	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8271	yes	10.74
E-MTAB-10596	no	954.26
E-HCAD-8	no	50.82
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Vagina	tissue	148.2	not detected
Pancreas	tissue	112.0	not detected
Salivary gland	tissue	97.6	medium
Bone marrow	tissue	97.2	not detected
Skin 1	tissue	91.3	low
Lymph node	tissue	78.4	medium
Thymus	tissue	71.9
Appendix	tissue	69.4	not detected
Duodenum	tissue	67.8	not detected
Stomach 1	tissue	65.8	not detected
Esophagus	tissue	65.1	low
Pituitary gland	tissue	63.4
Liver	tissue	62.7	medium
Colon	tissue	62.6	not detected
Frontal cortex	tissue	62.2
Parathyroid gland	tissue	62.1	low
Adrenal gland	tissue	60.8	medium
Tonsil	tissue	60.5	medium
Small intestine	tissue	55.9	not detected
Spleen	tissue	55.6	medium
Fallopian tube	tissue	51.0	medium
Prostate	tissue	49.6	medium
Breast	tissue	49.0	low
Choroid plexus	tissue	46.8
Adipose tissue	tissue	45.9	not detected
Urinary bladder	tissue	45.5	medium
Cervix	tissue	42.6	low
Ovary	tissue	42.3	medium
Seminal vesicle	tissue	42.0	medium
Lung	tissue	39.5	not detected
Kidney	tissue	38.8	medium
Rectum	tissue	37.8	not detected
Caudate putamen	tissue	36.4
Placenta	tissue	34.8	low
Thyroid gland	tissue	34.7	medium
Skeletal muscle	tissue	34.0	not detected
Gallbladder	tissue	29.4	medium
Locus coeruleus	tissue	29.1
Smooth muscle	tissue	27.8	not detected
Heart muscle	tissue	27.5	not detected
Nucleus accumbens	tissue	26.0
Endometrium 1	tissue	25.7	medium
Hippocampus	tissue	24.3	low
Epididymis	tissue	24.2	medium
Tongue	tissue	22.2
Postcentral gyrus	tissue	17.1
Basal ganglia	tissue	16.9	not detected
Testis	tissue	16.4	medium
Superior colliculi	tissue	16.1
Cerebellum	tissue	15.6	low
Putamen	tissue	15.4
Cerebral cortex	tissue	15.3	low
Somatosensory cortex	tissue	15.3
Hippocampal formation	tissue	15.0
Pons	tissue	14.9
Septum	tissue	14.7
Motor cortex	tissue	14.4
Hypothalamus	tissue	14.2
Temporal cortex	tissue	13.8
Thalamus	tissue	13.7

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Blood vessel (85.5), Anterior thalamic nucleus, ventral (39.4), Lateral funiculus (white matter) (39.4), Cervical spinal cord, ventral horn (35.4), Anterior funiculus (white matter) (34.9).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF5, CEBPB, CREM, E2F4, E4F1, ESR1, NFKB, NKX2-1, NR1H3, NR5A1, RARA, REST, SP1, SP3

miRNA regulators (miRDB)

Targeting APRT by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

8 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-642B-5P	96.37	67.26	745

Functional genomics

gnomAD constraint: pLI 4.74e-11, LOEUF 1.79, missense Z -1.83 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000378364 — one region, missense o/e 1.26.

Literature-anchored findings (GeneRIF, showing 13)

• kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients (PMID:14674717)
• determination of structure and examination of role of deficiency in DHA-urolithiasis (PMID:15196008)
• two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency (PMID:15571218)
• APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects). (PMID:17126311)
• Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate. (PMID:18399692)
• The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported. (PMID:19399589)
• Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals. (PMID:21635362)
• A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. (PMID:24986359)
• A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance. (PMID:25735432)
• We found large differences between tumour types and individual tumours in their expression of XDH and APRT Variations in locus-specific DNA methylation and gene copy number correlated with the expression levels of XDH and APRT in human tumours respectively (PMID:30104401)
• binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction. (PMID:31160323)
• Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. (PMID:33707627)
• Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma. (PMID:36433728)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	aprt	ENSDARG00000003519
mus_musculus	Aprt	ENSMUSG00000006589
drosophila_melanogaster	Aprt	FBGN0000109
caenorhabditis_elegans	T19B4.3	WBGENE00020557

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:88061) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 46 distinct phenotype terms.

Mouse phenotype (MP)	Records
nephrolithiasis	5
hunched posture	3
reduced fertility	3
premature death	3
renal interstitial fibrosis	3
weight loss	2
decreased body size	2
kidney inflammation	2
abnormal kidney morphology	2
dilated renal tubule	2
renal fibrosis	2
renal tubular necrosis	2
postnatal lethality, incomplete penetrance	2
preweaning lethality, incomplete penetrance	2
abnormal urine nucleoside level	2
cystolithiasis	2
decreased hematocrit	1
hydronephrosis	1
abnormal urinary bladder morphology	1
abnormal retina morphology	1
dehydration	1
abnormal coat appearance	1
disheveled coat	1
polyuria	1
small kidney	1

+21 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Mus spicilegus	P47957	100.0%	Diamond
Mycobacterium ulcerans Agy99	A0PPE4	99.5%	Diamond
Mycobacterium marinum M	B2HN75	99.5%	Diamond
Mycobacterium avium 104	A0QIA9	98.9%	Diamond
Mycobacterium avium subsp. paratuberculosis K-10	Q741P3	98.9%	Diamond
Mus pahari	P47956	98.3%	Diamond
Rhodococcus opacus B4	C1B4D6	96.6%	Diamond
Rattus norvegicus	P36972	95.6%	Diamond
Stochomys longicaudatus	P47958	95.6%	Diamond
Dipodillus campestris	Q64414	95.6%	Diamond
Mastomys natalensis	Q64427	95.6%	Diamond
Cricetulus griseus	P47952	95.0%	Diamond
Mycolicibacterium vanbaalenii PYR-1	A1T894	91.3%	Diamond
Mycolicibacterium gilvum PYR-GCK	A4TBR2	91.3%	Diamond
Bos taurus	Q56JW4	91.1%	Diamond
Drosophila pseudoobscura pseudoobscura	P54363	86.5%	Diamond
Debaryomyces hansenii CBS767	Q6BZF9	79.6%	Diamond
Mycolicibacterium smegmatis MC2 155	A0QWJ5	76.7%	Diamond
Acidiphilium cryptum JF-5	A5FVJ4	76.3%	Diamond
Granulibacter bethesdensis CGDNIH1	Q0BVB8	76.3%	Diamond
Saccharomyces cerevisiae S288C	P49435	74.1%	Diamond
Kluyveromyces lactis NRRL Y-1140	Q6CWV0	74.1%	Diamond
Eremothecium gossypii ATCC 10895	Q756E2	74.1%	Diamond
Rhodospirillum rubrum ATCC 11170	Q2RWT4	72.3%	Diamond
Paramagnetospirillum magneticum AMB-1	Q2W3C2	72.3%	Diamond
Nocardia farcinica IFM 10152	Q5YTF5	68.5%	Diamond
Mycoplasmoides genitalium G37	P47518	68.3%	Diamond
Corynebacterium kroppenstedtii DSM 44385	C4LIX2	68.0%	Diamond
Corynebacterium jeikeium K411	Q4JVE4	67.2%	Diamond
Bifidobacterium animalis subsp. lactis AD011	B8DUE5	64.2%	Diamond
Yarrowia lipolytica CLIB122	Q6CA53	62.6%	Diamond
Saccharopolyspora erythraea NRRL 2338	A4FBB2	57.0%	Diamond
Prochlorococcus marinus subsp. marinus str. CCMP1375	Q7VAL5	56.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
GALNS	protein-coding	2588
PABPN1L	protein-coding	390748
TRAPPC2L	protein-coding	51693
CDT1	protein-coding	81620
CBFA2T3	protein-coding	863
HSALR1	ncRNA	100289580
PIEZO1-AS1	ncRNA	339059
PIEZO1	protein-coding	9780
MIR4722	ncRNA	100616167
RNF166	protein-coding	115992
SNAI3-AS1	ncRNA	197187
SNAI3	protein-coding	333929
CTU2	protein-coding	348180

Protein

Protein identifiers

Adenine phosphoribosyltransferase — P07741 (reviewed: P07741)

All UniProt accessions (5): H3BQB1, H3BQF1, H3BQZ9, H3BSW3, P07741

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Disease relevance. Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.

Similarity. Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P07741-1	1	yes
P07741-2	2

RefSeq proteins (2): NP_000476, NP_001025189 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000836	PRTase_dom	Domain
IPR005764	Ade_phspho_trans	Family
IPR029057	PRTase-like	Homologous_superfamily
IPR050054	UPRTase/APRTase	Family

Pfam: PF00156

Catalyzed reactions (Rhea)

• AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine (RHEA:16609)

UniProt features (40 total): sequence variant 10, strand 10, helix 9, modified residue 8, initiator methionine 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

16 structures by resolution:

PDB	Title	Method	Resolution (Å)
6FCH	Crystal Structure of Human APRT wild type in complex with PRPP and Mg2+	X-RAY DIFFRACTION	1.45
6FCL	Crystal Structure of Human APRT wild type in complex with AMP	X-RAY DIFFRACTION	1.5
6FD4	Crystal Structure of Human APRT-Tyr105Phe variant in complex with Adenine, PRPP and Mg2+ …	X-RAY DIFFRACTION	1.5
6HGR	Crystal Structure of Human APRT wild type in complex with IMP	X-RAY DIFFRACTION	1.52
6FD5	Crystal Structure of Human APRT-Tyr105Phe variant in complex with Adenine, PRPP and Mg2+ …	X-RAY DIFFRACTION	1.55
6HGS	Crystal Structure of Human APRT wild type in complex with GMP	X-RAY DIFFRACTION	1.55
6HGP	Crystal Structure of Human APRT wild type in complex with Phosphate ion.	X-RAY DIFFRACTION	1.7
4X45	Crystal Structure of F173G Mutant of Human APRT	X-RAY DIFFRACTION	1.75
1ZN8	Human Adenine Phosphoribosyltransferase Complexed with AMP, in Space Group P1 at 1.76 A …	X-RAY DIFFRACTION	1.76
6FD6	Crystal Structure of Human APRT-Tyr105Phe variant in complex with Adenine, PRPP and Mg2+ …	X-RAY DIFFRACTION	1.8
1ZN7	Human Adenine Phosphoribosyltransferase Complexed with PRPP, ADE and R5P	X-RAY DIFFRACTION	1.83
6HGQ	Crystal Structure of Human APRT wild type in complex with Hypoxanthine, PRPP and Mg2+	X-RAY DIFFRACTION	1.9
6FCI	Crystal Structure of Human APRT wild type in complex with Adenine, PRPP and Mg2+	X-RAY DIFFRACTION	1.94
1ZN9	Human Adenine Phosphoribosyltransferase in Apo and AMP Complexed Forms	X-RAY DIFFRACTION	2.05
4X44	Crystal Structure of Mutant R89Q of human Adenine phosphoribosyltransferase	X-RAY DIFFRACTION	2.05
1ORE	Human Adenine Phosphoribosyltransferase	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07741-F1	96.91	0.96

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Metabolic proteins, Predicted intracellular proteins, Plasma proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital disorders of metabolism, Congenital disorders of nucleotide metabolism

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; nucleoplasm

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

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

Post-translational modifications (8)

Type	Positions
N-acetylalanine	2
Phosphoserine	4, 15, 30, 66
Phosphotyrosine	60
N6-acetyllysine	114
Phosphothreonine	135

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 12; 5 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

12 pathways:

ID	Pathway	Evidence
R-HSA-9734195	Defective APRT disrupts adenine salvage ⚕	curated
R-HSA-6798695	Neutrophil degranulation	curated
R-HSA-74217	Purine salvage	curated
R-HSA-1643685	Disease ⚕	—
R-HSA-5668914	Diseases of metabolism ⚕	—
R-HSA-9735804	Diseases of nucleotide metabolism ⚕	—
R-HSA-9734207	Nucleotide salvage defects ⚕	—
R-HSA-168256	Immune System	—
R-HSA-168249	Innate Immune System	—
R-HSA-1430728	Metabolism	—
R-HSA-15869	Metabolism of nucleotides	—
R-HSA-8956321	Nucleotide salvage	—

MSigDB gene sets: 305 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, HONMA_DOCETAXEL_RESISTANCE, REACTOME_INNATE_IMMUNE_SYSTEM, CHIBA_RESPONSE_TO_TSA_UP, GOBP_BEHAVIOR, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_56, GOCC_SECRETORY_GRANULE, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCM_NPM1, DAZARD_UV_RESPONSE_CLUSTER_G4, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (5): purine ribonucleoside salvage (GO:0006166), adenine salvage (GO:0006168), IMP salvage (GO:0032264), AMP salvage (GO:0044209), GMP salvage (GO:0032263)

GO Molecular Function (7): adenine binding (GO:0002055), adenine phosphoribosyltransferase activity (GO:0003999), AMP binding (GO:0016208), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), heterocyclic compound binding (GO:1901363)

GO Cellular Component (5): extracellular region (GO:0005576), cytoplasm (GO:0005737), cytosol (GO:0005829), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062)

Reactome top-level categories

9 top-level categories:

Category	Pathways
Innate Immune System	1
Nucleotide salvage	1
Nucleotide salvage defects	1
Metabolism	1
Immune System	1
Disease	1
Metabolism of nucleotides	1
Diseases of nucleotide metabolism	1
Diseases of metabolism	1

GO top-level categories

24 GO namespaces:

Category	Terms
purine ribonucleotide salvage	3
cellular anatomical structure	3
purine-containing compound salvage	1
nucleoside salvage	1
purine ribonucleoside biosynthetic process	1
purine nucleobase salvage	1
adenine biosynthetic process	1
IMP biosynthetic process	1
AMP biosynthetic process	1
GMP biosynthetic process	1
purine nucleobase binding	1
purine phosphoribosyltransferase activity	1
adenyl ribonucleotide binding	1
anion binding	1
cation binding	1
binding	1
catalytic activity	1
transferase activity	1
small molecule binding	1
intracellular anatomical structure	1
cytoplasm	1
secretory granule	1
cytoplasmic vesicle lumen	1
extracellular vesicle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
cytosol	CC	direct assay
extracellular exosome	CC	high-throughput assay
AMP binding	MF	direct assay
adenine phosphoribosyltransferase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 3,125 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APRT	ADK	P55263	921
APRT	HPRT1	P00492	919
APRT	GALNS	P34059	833
APRT	PNP	P00491	774
APRT	ADSL	P30566	768
APRT	TAT	P17735	741
APRT	GDA	Q9Y2T3	706
APRT	GMPS	P49915	686
APRT	AMPD3	Q01432	685
APRT	ADA	P00813	671
APRT	AMPD2	Q01433	662
APRT	AMPD1	P23109	658
APRT	PPAT	Q06203	657
APRT	IMPDH2	P12268	648
APRT	UMPS	P11172	645

IntAct

Human interaction partners of APRT in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

11 partners by confidence:

Partner	Interaction type	MIscore	Records
SPRED1	physical association	0.560	3
TTC19	physical association	0.560	3
KLHL24	physical association	0.400	1
UNC45B	physical association	0.400	1
MLH1	physical association	0.370	1
FTSJ1	physical association	0.000	1
GH1	physical association	0.000	1
IKBKE	physical association	0.000	1
MCC	physical association	0.000	1
TRAF6	physical association	0.000	1
VHL	physical association	0.000	1

BioGRID (137 interactions; top human partners by supporting records): SQSTM1 (Proximity Label-MS; 3 records), PARK2 (Affinity Capture-MS; 2 records), RAF1 (Affinity Capture-MS; 2 records), UMPS (Co-fractionation; 2 records), AAR2 (Affinity Capture-MS), ACE2 (Affinity Capture-MS), ADA (Co-fractionation), ADIPOR2 (Affinity Capture-MS), AGR2 (Proximity Label-MS), ANKZF1 (Affinity Capture-MS), APP (Reconstituted Complex), AR (Affinity Capture-MS), ATG16L1 (Proximity Label-MS), ATG5 (Proximity Label-MS), BAG1 (Affinity Capture-MS)

SIGNOR signaling

4 signaling interactions:

A	Effect	B	Mechanism
APRT	“down-regulates quantity”	adenine	“chemical modification”
APRT	“down-regulates quantity”	“5-phospho-α-D-ribose 1-diphosphate”	“chemical modification”
APRT	“up-regulates quantity”	AMP	“chemical modification”
APRT	“up-regulates quantity”	diphosphate(3-)	“chemical modification”

Disease & clinical

Genetic variants

Variant evidence for APRT: 222 ClinVar records (80 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	56
Likely pathogenic	24
Uncertain significance	74
Likely benign	31
Benign	10

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 80 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
18298	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	6
18297	NM_000485.3(APRT):c.194A>T (p.Asp65Val)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
988053	NM_000485.3(APRT):c.289_290del (p.Leu97fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
988028	NM_000485.3(APRT):c.1A>G (p.Met1Val)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
988045	NM_000485.3(APRT):c.199C>T (p.Arg67Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
988049	NM_000485.3(APRT):c.259C>T (p.Arg87Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
4074265	NM_000485.3(APRT):c.3G>C (p.Met1Ile)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
988046	NM_000485.3(APRT):c.200G>A (p.Arg67Gln)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	4
988044	NM_000485.3(APRT):c.188G>A (p.Gly63Asp)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
3777188	NM_000485.3(APRT):c.397G>C (p.Gly133Arg)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
18296	NM_000485.3(APRT):c.407T>C (p.Met136Thr)	Pathogenic	criteria provided, single submitter	4
988068	NM_000485.3(APRT):c.472_474del (p.Glu158del)	Pathogenic	criteria provided, single submitter	2
988021	NM_000485.3(APRT):c.522_524del (p.Ser175del)	Pathogenic	criteria provided, single submitter	1
988029	NM_000485.3(APRT):c.2T>C (p.Met1Thr)	Pathogenic	criteria provided, single submitter	1
988031	NM_000485.3(APRT):c.23dup (p.Val9fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore APRT’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 477):

Position(s)	Effect	Δscore	Sites
16:88810421–88810422	donor_loss	1.0000	5
16:88810068–88810069	donor_loss	0.9900	5
16:88810149–88810150	acceptor_loss	0.9900	6
16:88810184	acceptor_gain	0.9900
16:88810425	donor_gain	0.9900
16:88810557–88810558	acceptor_loss	0.9900	6
16:88810068	donor_loss	0.9800
16:88811549	donor_loss	0.9800	3
16:88810426	donor_gain	0.9500
16:88810474	donor_gain	0.9500

AlphaMissense

460 missense substitutions predicted likely pathogenic (of 1,127 scored), across 126 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D128	8	0.988	0.995
D127	8	0.980	0.995
D28	8	0.976	0.988
F26	8	0.944	0.996
F69	8	0.937	0.993
D65	8	0.890	0.976
F19	7	0.972	0.996
E104	7	0.928	0.968
E158	7	0.843	0.943
F39	7	0.821	0.924
F71	7	0.820	0.943
K88	6	0.978	0.992
G68	6	0.943	0.982
K91	6	0.926	0.967
G133	6	0.918	0.985
Y105	6	0.906	0.986
P20	6	0.901	0.946
P93	6	0.875	0.950
G164	6	0.871	0.958
A131	6	0.853	0.963

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (validation)	unfavorable	0.000154
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000693
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	0.000942

Disease associations

OMIM: gene MIM:102600 | disease phenotypes: MIM:253000, MIM:614723

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
adenine phosphoribosyltransferase deficiency	Definitive	Autosomal recessive	4

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (9 panels, 8 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

9 panels:

Panel	Rating
Hypotonic infant	green
Leukodystrophy, childhood onset	green
Likely inborn error of metabolism	green
Nephrocalcinosis or nephrolithiasis	green
Paediatric disorders	green
Undiagnosed metabolic disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Unexplained young onset end-stage renal disease	green
Unexplained kidney failure in young people	amber

Mondo (2): mucopolysaccharidosis type 4A (MONDO:0009659), adenine phosphoribosyltransferase deficiency (MONDO:0013869)

Orphanet (3): Mucopolysaccharidosis type 4A (Orphanet:309297), Mucopolysaccharidosis type 4 (Orphanet:582), Adenine phosphoribosyltransferase deficiency (Orphanet:976)

HPO phenotypes

28 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000019	Urinary hesitancy
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000787	Kidney stone
HP:0000790	Hematuria
HP:0000791	Uric acid nephrolithiasis
HP:0000822	Hypertension
HP:0001919	Acute kidney injury
HP:0001942	Metabolic acidosis
HP:0002027	Abdominal pain
HP:0003259	Elevated circulating creatinine concentration
HP:0003621	Juvenile onset
HP:0003774	Stage 5 chronic kidney disease
HP:0005110	Atrial fibrillation
HP:0011463	Childhood onset
HP:0011848	Abdominal colic
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012587	Macroscopic hematuria
HP:0012622	Chronic kidney disease
HP:0030157	Flank pain
HP:0034279	2,8-dihydroxyadenine crystalluria
HP:0034368	Urolithiasis
HP:0100518	Dysuria
HP:0100520	Oliguria
HP:6000803	Elevated urinary 2,8-dihydroxyadenine level

GWAS associations

1 associations:

Study	Trait	p-value
GCST003479_9	Hair color	1e-7

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
C538228	Adenine phosphoribosyltransferase deficiency *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105819 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 2,278 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

1 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL2105728	CRENOLANIB	3	2,278

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.88	Kd	13.08	nM	CHEMBL5653589
7.88	ED50	13.08	nM	CHEMBL5653589
7.54	Kd	29	nM	CRENOLANIB

PubChem BioAssay actives

2 with measured affinity, of 186 total; 2 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147877: Binding affinity to human APRT incubated for 45 mins by Kinobead based pull down assay	kd	0.0131	uM
1-[2-[5-[(3-methyloxetan-3-yl)methoxy]benzimidazol-1-yl]quinolin-8-yl]piperidin-4-amine	1424914: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0290	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	4
perfluorooctane sulfonic acid	decreases expression, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
perfluorooctanoic acid	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
beauvericin	decreases expression	1
bufotalin	increases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	decreases expression	1
lead acetate	decreases activity	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
ochratoxin A	increases expression	1
2-amino-3-methylimidazo(4,5-f)quinoline	increases mutagenesis, increases response to substance	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Aspirin	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3991627	Binding	Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma	The target landscape of clinical kinase drugs. — *Science*

Cellosaurus cell lines

22 cell lines: 20 transformed cell line, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_0R03	GM07290	Transformed cell line	Male
CVCL_0R04	GM07291	Transformed cell line	Female
CVCL_0R06	GM10807	Transformed cell line	Male
CVCL_5606	WR216	Transformed cell line
CVCL_B2RW	Abcam HEK293T APRT KO	Transformed cell line	Female
CVCL_SD05	HAP1 APRT (-) 1	Cancer cell line	Male
CVCL_SD06	HAP1 APRT (-) 2	Cancer cell line	Male
CVCL_W060	WR002	Transformed cell line
CVCL_W061	WR004	Transformed cell line
CVCL_W062	WR005	Transformed cell line

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

26 trials:

NCT	Phase	Status	Title
NCT02752633	Phase 4	COMPLETED	Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion
NCT01275066	Phase 3	COMPLETED	A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT01415427	Phase 3	COMPLETED	Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT01515956	Phase 2	COMPLETED	Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT01609062	Phase 2	TERMINATED	Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
NCT01697319	Phase 2	TERMINATED	Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation
NCT03632213	Phase 2	UNKNOWN	Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
NCT04532047	Phase 1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT00588562	Not specified	RECRUITING	Rare Kidney Stone Consortium Patient Registry
NCT02026388	Not specified	RECRUITING	Rare Kidney Stone Consortium Biobank
NCT02780297	Not specified	RECRUITING	Prospective Research Rare Kidney Stones (ProRKS)
NCT03655223	Not specified	ACTIVE_NOT_RECRUITING	Early Check: Expanded Screening in Newborns
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT00884949	Phase 1/2	COMPLETED	A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA
NCT01242111	Phase 1/2	TERMINATED	A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT05845749	Phase 1/2	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
NCT00787995	Not specified	TERMINATED	A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)
NCT01457456	Not specified	WITHDRAWN	Biomarker for Morquio Disease (BioMorquio)
NCT01733615	Not specified	TERMINATED	Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
NCT01858103	Not specified	APPROVED_FOR_MARKETING	BMN 110 US Expanded Access Program
NCT01920828	Not specified	COMPLETED	Gait Analysis in MPS IVA
NCT01961518	Not specified	COMPLETED	Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
NCT02153255	Not specified	WITHDRAWN	Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
NCT02294877	Not specified	COMPLETED	A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
NCT05284006	Not specified	RECRUITING	Non-invasive Functional Assessment and Pathogenesis of Morquio A
NCT07361536	Not specified	RECRUITING	Cardiac Structure and Function in MPS

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for APRT across ~30M SureChEMBL compounds — explore on Sugi Predict.