This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also.
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Protein Aliases: Ornithine carbamoyltransferase, mitochondrial; ornithine transcarbamylase; Ornithine transcarbamylase, mitochondrial; OTCase
Gene Aliases: OCTD; OTC
UniProt ID: (Human) P00480
Entrez Gene ID: (Human) 5009