HPRT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HPRT1 wild-type allele is located in the vicinity of Xq26.1 and is approximately 40 kb in length. This allele, which encodes hypoxanthine-guanine phosphoribosyltransferase protein, plays a role in purine salvage. Certain allelic variants of the HPRT1 gene cause HPRT-related gout or Lesch-Nyhan syndrome.

**Synonyms:** - HGPRT - HPRT - Hypoxanthine Phosphoribosyltransferase 1 (Lesch-Nyhan Syndrome) wt Allele