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Details of HPRT1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HPRT1 | HPRT | P00492 | HPRT_HUMAN | 3251
| ENSG00000165704
| Hypoxanthine-guanine phosphoribosyltransferase | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Lesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self- mutilation. Note=The disease is caused by mutations affecting the gene represented in this entry. |
300322 |
Gout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
300323 |
