OPLAH Chromosome 8
5-oxoprolinase, ATP-hydrolysing
Upload your DNA to see your personal genotypes for variants in OPLAH.
What This Gene Does
The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000178814
Associated Conditions (2)
5-Oxoprolinase deficiency
OPLAH-related disorder
Key Variants
RS11777194
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS1373642781
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS144920839
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS200098915
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS201475103
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS375262758
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS781785267
Conflicting classifications of pathogenicity
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS1430134820
Likely pathogenic
OPLAH-related disorder, OPLAH-related disorder
Health Risk
RS1554757924
Likely pathogenic
OPLAH-related disorder, OPLAH-related disorder
Health Risk
RS1554759918
Likely pathogenic
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS199718844
Likely pathogenic
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
RS2540242461
Likely pathogenic
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11777194 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1373642781 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS144920839 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS200098915 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS201475103 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS375262758 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS781785267 | Health Risk | Conflicting classifications of pathogenicity | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1430134820 | Health Risk | Likely pathogenic | OPLAH-related disorder, OPLAH-related disorder |
| RS1554757924 | Health Risk | Likely pathogenic | OPLAH-related disorder, OPLAH-related disorder |
| RS1554759918 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS199718844 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS2540242461 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS2540247952 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS539275646 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS782653195 | Health Risk | Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1292344717 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1554760412 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1835460763 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1835478520 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1835598414 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS2129776234 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS2540240013 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS2540262850 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS398122906 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS543486699 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS781818673 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS781956288 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS781977956 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS782628949 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS782750497 | Health Risk | Pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS1272869557 | Health Risk | Pathogenic/Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS782331682 | Health Risk | Pathogenic/Likely pathogenic | 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |