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phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene. HGPRT is a transferase that catalyzes conversion of hypoxanthine to...

phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births...

attempted this approach. The authors deleted regions outside a gene of interest(HPRT1 involved in a Mendelian disorder) in an attempt to identify regulatory elements...

Lesch–Nyhan syndrome. This genetic disease is caused by a malfunction in the HPRT1 gene, which clinically leads to the fatal uric acid urinary stone and symptoms...

HGNC:17890; O60760 7242 HPN HGNC:5155; P05981 7243 HPR HGNC:5156; P00739 7244 HPRT1 HGNC:5157; P00492 7245 HPS1 HGNC:5163; Q92902 7246 HPS3 HGNC:15597; Q969F9...

type of stain. Housekeeping genes and proteins, including β-Actin, GAPDH, HPRT1, and RPLP1, are often used as internal controls in western blots because...

co-complex interactions. ISCU appears to interact with ISCS, NUP62, SDHB, HPRT1, CCDC172, GOLGA2, IKZF1, KRT40, AGTRAP, NECAB2, FAM9B, BANP, LNX1, MID2...

genes, at an endogenous rat gene, and at endogenous human genes. The human HPRT1 gene has been targeted at detectable, but unquantified levels. In addition...

Hoyeraal–Hreidarsson syndrome; 300240; DKC1 HPRT-related gout; 300323; HPRT1 Huntington's disease; 143100; HTT Huntington disease-like 1; 603218; PRNP...