Hypoxanthine-guanine phosphoribosyltransferase
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| Ribbon diagram of a human HPRT tetramer. Magnesium ions visible in green. From PDB 1BZY. | |
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hypoxanthine phosphoribosyltransferase 1
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| Identifiers | |
| Symbol | HPRT1 HPRT |
| HUGO | 5157 |
| Entrez | 3251 |
| OMIM | 308000 |
| RefSeq | NM_000194 |
| UniProt | P00492 |
| Other data | |
| EC number | 2.4.2.8 |
| Locus | Chr. X q26.1 |
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.
[edit] Role in disease
Mutations in the gene lead to hyperuricemia:
- 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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Hexosyltransferases: Glucosyltransferases (Glycogen branching enzyme, Glycogen synthase, Glycogen phosphorylase, Phosphorylase/Myophosphorylase) - Glucuronosyltransferase
Pentosyltransferases: Adenine phosphoribosyltransferase - Hypoxanthine-guanine phosphoribosyltransferase - ADP Ribose (Cholera toxin, Diphtheria toxin, Pertussis toxin, Poly ADP ribose polymerase)
