UROC1 Chromosome 3
Urocanate hydratase 1
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What This Gene Does
This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
Associated Conditions (2)
Urocanate hydratase deficiency
UROC1-related disorder
Key Variants
RS150437149
Conflicting classifications of pathogenicity
Health Risk
RS202232611
Conflicting classifications of pathogenicity
Urocanate hydratase deficiency, Urocanate hydratase deficiency
Health Risk
RS35516512
Conflicting classifications of pathogenicity
UROC1-related disorder, UROC1-related disorder
Health Risk
RS377309471
Conflicting classifications of pathogenicity
Health Risk
RS137852795
Pathogenic
Urocanate hydratase deficiency, Urocanate hydratase deficiency
Health Risk
RS137852796
Pathogenic
Urocanate hydratase deficiency, Urocanate hydratase deficiency
Health Risk
RS1935770465
Pathogenic
Urocanate hydratase deficiency, Urocanate hydratase deficiency
Health Risk
RS781621925
Pathogenic/Likely pathogenic
Urocanate hydratase deficiency, Urocanate hydratase deficiency
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150437149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202232611 | Health Risk | Conflicting classifications of pathogenicity | Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS35516512 | Health Risk | Conflicting classifications of pathogenicity | UROC1-related disorder, UROC1-related disorder |
| RS377309471 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137852795 | Health Risk | Pathogenic | Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS137852796 | Health Risk | Pathogenic | Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS1935770465 | Health Risk | Pathogenic | Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS781621925 | Health Risk | Pathogenic/Likely pathogenic | Urocanate hydratase deficiency, Urocanate hydratase deficiency |