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OTC ornithine transcarbamylase

Gene ID: 5009, updated on 28-May-2023
Gene type: protein coding
Also known as: OCTD; OTC1; OTCD; OTCase


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]

Copy number response

Copy number response

No evidence available (Last evaluated 2012-06-28)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-28)

ClinGen Genome Curation Page

Genomic context

Chromosome: X; NC_000023.11 (38327684..38422928)
Total number of exons:


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