UROC1 urocanate hydratase 1
Gene ID: 131669, updated on 10-Dec-2024Gene type: protein coding
Also known as: UROCD; HMFN0320
- See all available tests in GTR for this gene
- Go to complete Gene record for UROC1
- Go to Variation Viewer for UROC1 variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Urocanate hydratase deficiency | See labs |
Genomic context
- Location:
- 3q21.3
- Sequence:
- Chromosome: 3; NC_000003.12 (126481166..126517773, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UROC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UROC1 database
- Variation ViewerRelated Variants
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