Aliases for HPRT1 Gene
External Ids for HPRT1 Gene
Previous HGNC Symbols for HPRT1 Gene
Previous GeneCards Identifiers for HPRT1 Gene
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]
GeneCards Summary for HPRT1 Gene
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) is a Protein Coding gene. Diseases associated with HPRT1 include Kelley-Seegmiller Syndrome and Lesch-Nyhan Syndrome. Among its related pathways are Mesodermal Commitment Pathway and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and nucleotide binding. An important paralog of this gene is PRTFDC1.
UniProtKB/Swiss-Prot for HPRT1 Gene
Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.