🧬 基因注释：SCO2
📝 官方信息
官方名称：synthesis of cytochrome C oxidase 2
功能摘要：Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录