OTC ornithine transcarbamylase
Gene ID: 5009, updated on 28-May-2023Gene type: protein coding
Also known as: OCTD; OTC1; OTCD; OTCase
- See all available tests in GTR for this gene
- Go to complete Gene record for OTC
- Go to Variation Viewer for OTC variants
Summary
This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ornithine carbamoyltransferase deficiency MedGen: C0268542OMIM: 311250GeneReviews: Urea Cycle Disorders Overview, Ornithine Transcarbamylase Deficiency | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-06-28) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-28) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xp11.4
- Sequence:
- Chromosome: X; NC_000023.11 (38327684..38422928)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for OTC variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Ornithine CarbamoylTransferase (OTC) @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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