APRT Antibody

1. A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance. PMID: 25735432
2. A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency. PMID: 24986359
3. 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
4. kinetic, regulatory and thermostability properties of APRT from erythrocytes of HGPRT deficient patients PMID: 14674717
5. determination of structure and examination of role of deficiency in DHA-urolithiasis PMID: 15196008
6. two novel mutations, G133D and V84M, were found in the APRT gene in Japanese patients with APRT deficiency PMID: 15571218
7. 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
8. Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate. PMID: 18399692
9. The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported. PMID: 19399589

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HGNC: 626

OMIM: 102600

KEGG: hsa:353

STRING: 9606.ENSP00000367615

UniGene: Hs.28914