Entity Details
Details
| PrimaryID | 26873 |
| RefseqGene | NG_032671 |
| Symbol | OPLAH |
| Name | 5-oxoprolinase, ATP-hydrolysing |
| Chromosome | 8 |
| Location | 8q24.3 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2000-02-20 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 260005 | OMIM | 5-oxoprolinase deficiency (OPLAHD) | A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
8 interactions