HPRT1 (hypoxanthine phosphoribosyltransferase 1) enzyme is an essential part of the purine salvage pathway. The corresponding gene is localized to human chromosome Xq26-27, which is composed of nine exons. The encoded protein is composed of 218 amino acids.
Synonyms: Anti-HGPRT antibody produced in rabbit; Anti-HGPRTase antibody produced in rabbit; Anti-Hypoxanthine-guanine phosphoribosyltransferase antibody produced in rabbit
Storage: -20C
Application: Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.Western Blotting (1 paper)
Biochem Physiol Actions: HPRT1 (hypoxanthine phosphoribosyltransferase 1) functions in the purine salvage pathway, where it recycles guanine and hypoxanthine into available nucleotides. Degree of enzyme inactivity determines the severity of the related disorder. Incomplete inactivation results in Kelley-Seegmiller syndrome, which is characterized by uric acid nephrolithiasis, hyperuricemia, hyperuricaciduria, and gout arthritis. Severest disorder caused by inactivation of this gene is called Lesch-Nyhan disease (LND).
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