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OTC

Official Full Name
ornithine transcarbamylase
Organism
Homo sapiens
GeneID
5009
Background
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]
Synonyms
OCTD; OTC1; OTCD; OTCase;

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