Cloned (Comment) | Organism |
---|---|
gene hprt, sequencing of wild-type and mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F199C | a naturally occuring mutation T596G, leads to 8% residual HPRT activity and causes juvenile-onset, severe gouty arthritis, nephrolithiasis, and mild neurologic symptoms. Adenine phosphoribosyltransferase, APRT, EC 2.4.2.7, in erythrocytes from subjects with HPRT deficiency is typically increased about 23fold compared with controls. Modeling of the mutated protein for prediction of the mechanisms of partial enzymatic activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00492 | gene HPRT | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.00016 | - |
F199C mutant erythrocytes | Homo sapiens |
0.0002 | 0.00029 | wild-type erythrocytes | Homo sapiens |
Subunits | Comment | Organism |
---|---|---|
dimer | residues 198-204 are involved in the largest dimer interface | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
HPRT | - |
Homo sapiens |
hypoxanthine guanine phosphoribosyltransferase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | a deficiency in HPRT activity leads to overproduction of uric acid, hyperuricemia, with gouty arthritis, nephrolithiasis, and mild neurologic symptoms. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease | Homo sapiens |