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
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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