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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase, mitochondrial; OTCase; unnamed protein product
基因别名: OCTD; OTC; OTC1; OTCase; OTCD
UniProt ID: (Human) P00480
Entrez Gene ID: (Human) 5009