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Target intelligence / Profile preview
Urocanate hydratase (UROC1)
- Target
- UROC1
- Molecular classification
- Enzyme
01
Overview
Urocanate hydratase (UROC1), also called urocanase or imidazolonepropionate hydrolase, is an enzyme that catalyzes the second step in the degradation of the amino acid histidine: the hydration of urocanate to form 4,5-dihydro-4-oxo-5-imidazolepropanoate[1][3][4]. UROC1 is highly expressed in the liver and is critical for histidine catabolism. Mutations in the UROC1 gene can lead to urocanase deficiency (urocanic aciduria), manifesting as elevated urocanic acid levels in urine and can be associated with neurological symptoms such as intellectual disability and ataxia[2][5][6]. No drugs are currently known to directly target UROC1, and it is not a current focus for therapeutic drug development.
- Other names
- UrocanaseImidazolonepropionate hydrolaseUrocanase 1FLJ31300HMFN0320UROCDUrocanase domain containing 1
02
Biological functions
Histidine catabolismAmino acid metabolism
03
Disease associations
Inborn errors of metabolism (Urocanic aciduria)Neurological disorders (e.g., intellectual disability, ataxia)
04
Safety considerations
Deficiency leads to abnormal accumulation of urocanic acid (urocanic aciduria) which can result in neurological symptoms such as developmental delay and ataxia[2][5]
05
Biomarkers
Urocanic acid (urine)
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