Literature associating HPRT1 and Bloch-Sulzberger 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, A0A140VJL3, P00492 ...