當(dāng)前位置:首頁 > 產(chǎn)品中心 > 抗體/抗原 > 標(biāo)記一抗 > bs-6724R-BioBiotin標(biāo)記的鳥氨酸氨基甲酰轉(zhuǎn)移酶抗體
簡要描述: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]
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