Health / Medical Topics |
HPRT1 wt Allele
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. (NCI Thesaurus)
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