Hypoxanthine Phosphoribosyltransferase 1 (HPRT1)

HGPRT; HGPRTase; HPRT; Lesch-Nyhan Syndrome; Hypoxanthine-guanine phosphoribosyltransferase

SPN	W095
HGNC	5157
MGI	96217
PubMed	16355393
RGD	2826
UniProt	P00492
Wiki	HPRT

HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. The Lesch-Nyhan syndrome is particularly favorable for this purpose because no affected males reproduce, the diagnosis is unequivocal and cases come readily to attention, and particularly because heterozygosity can be demonstrated in females by the existence of 2 populations of cultured fibroblasts. There were few new mutations, contrary to the expected one-third. On the other hand, about one-half of heterozygous females were new mutations, as is predicted by theory.

Reference

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