HPRT1

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout. [provided by RefSeq, Jun 2009]

Description

hypoxanthine phosphoribosyltransferase 1

Protein family

Disease related genes, Enzymes, FDA approved drug targets, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

X (134460153 - 134520513)

Ensembl ID

ENSG00000165704  (ver. 84.38)

Orthologs

Mouse Hprt: ENSMUSG00000025630

UniProt

P00492

neXtProt

NX_P00492

Human splice variants
Mouse splice variants