Hypoxanthine-guanine phosphoribosyltransferase - Wikipedia, the free encyclopedia
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Hypoxanthine-guanine
phosphoribosyltransferase
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hypoxanthine phosphoribosyltransferase 1
Hypoxanthine-guanine phosphoribosyltransferase
(HPRT) is an enzyme in purine metabolism. It converts
hypoxanthine to inosine monophosphate,and in some
species, guanine to guanine monophosphate (often
renamed as HGPRT). Certain HPRTs can also convert
xanthine to xanthine monophosphate.
The enzyme primarily functions to salvage purines from
degraded DNA to renewed purine synthesis. In this role,
it acts as a catalyst in the reaction between guanine and
phosphoribosyl pyrophosphate (PRPP) to form GMP.
Identifiers
Symbol(s)
Entrez
OMIM
RefSeq
UniProt
Other data
EC number
Locus
HPRT1 HPRT
3251
308000
NM_000194
P00492
2.4.2.8
Chr. X q26.1
[edit] Role in disease
Mutations in the gene lead to hyperuricemia:
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Lesch-Nyhan syndrome is due to HPRT mutations.
Some mutations have been linked to gout, the risk of which is increased in hyperuricemia.
[edit] External link
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Purine metabolism at genome.jp
MeSH Hypoxanthine+phosphoribosyltransferase
http://en.wikipedia.org/wiki/HPRT (1 of 3)09/01/2007 15:17:36
Hypoxanthine-guanine phosphoribosyltransferase - Wikipedia, the free encyclopedia
This enzyme-related article is a stub. You can help Wikipedia by expanding it.
Retrieved from "http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase"
Categories: Enzyme stubs | EC 2.4.2
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Hypoxanthine-guanine phosphoribosyltransferase - Wikipedia, the free encyclopedia
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This page was last modified 13:59, 7 January 2007.
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http://en.wikipedia.org/wiki/HPRT (3 of 3)09/01/2007 15:17:36