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Cosa (chi) è hypoxanthine$37115$ - definizione
GROUP OF PROTEINS WITH HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE ACTIVITY
HPRT; HGPRT; Hypoxanthine phosphoribosyltransferase; Hypoxanthine/guanine phosphoribosyl transferase; Hypoxanthine phosphoribosyltransferase 1; HPRT1; Hgprt; Hprt; Hypoxanthine-guanine phosphoribosyl transferase; Hypoxanthine guanine phosphoriberyltransform; Hypoxanthine guanine phosphoribory itransferase; High-performace guanine phophoriboost transferase; Hypoxanthine guanine phosphoribosyl transferase; HPRT1 (gene); EC 2.4.2.8; GPRT; IMP:diphosphate phospho-D-ribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene.
Lesch–Nyhan syndrome
RARE GENETIC SYNDROME
Lesch-Nyhan Syndrome; Lesch-Nyhan; Lesch-nyhan syndrome; Lesch-nyhans syndrome; Choreoathetosis self-mutilation hyperuricemia syndrome; Complete HPRT deficiency; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; X-linked primary hyperuricemia; X-linked uric aciduria enzyme defect; HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency; Hypoxanthine phosphoribosyltransferse (HPRT) deficiency; Juvenile gout, choreoathetosis, mental retardation syndrome; Juvenile hyperuricemia syndrome; Primary hyperuricemia syndrome; Total HPRT deficiency; Total hypoxanthine-guanine phosphoribosyl transferase deficiency; Lesch nyhan; Kelley-Seegmiller syndrome; Kelley-Seegmiller Syndrome; Lesh-Nyhan syndrome; Juvenile gout; Lesch-Nyhan syndrome; Lesch-Nyhan disease; Lesch–Nyhan Syndrome; Kelley-Seegmiller; Kelley–Seegmiller syndrome
Primary hyperuricemia syndrome, Choreoathetosis self-mutilation syndrome, X-linked primary hyperuricemia, HGPRT deficiency
inosine
CHEMICAL COMPOUND
Inosine nucleotides; ATC code D06BB05; ATCvet code QD06BB05; ATC code G01AX02; ATCvet code QG01AX02; ATC code S01XA10; ATCvet code QS01XA10; C10H12N4O5
Wikipedia
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene.
HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. This reaction transfers the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine. HGPRT plays a central role in the generation of purine nucleotides through the purine salvage pathway.
