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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; Ornithine transcarbamylase, mitochondrial; OTCase; sparse fur
基因别名: AI265390; OCTD; OTC; Sf; spf
UniProt ID: (Human) P00480, (Mouse) P11725, (Rat) P00481
Entrez Gene ID: (Human) 5009, (Mouse) 18416, (Rat) 25611