Disease-gene associations mined from literature

Literature associating HPRT1 and Cockayne syndrome

HPRT1 [ENSP00000298556]

Hypoxanthine-guanine phosphoribosyltransferase; 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.

Synonyms:  HPRT1,  HPRT1p,  hHPRT1,  P00492,  HPRT ...

Linkouts:  STRING  Pharos  UniProt  OMIM