靶标：
OTC
产品别名：
OCTD； OTC1； OTCD； OTCase； OTC； ornithine transcarbamylase； ornithine transcarbamylase； ornithine transcarbamylase, mitochondrial； ornithine carbamoyltransferase, mitochondrial； 鸟氨酸氨基甲酰转移酶； 鸟氨酸氨基甲酰转移酶(OTC)； 鸟氨酸氨甲酰基线粒体；
背景信息：
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. [provided by RefSeq, Jul 2008],
