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🧬 基因注释:COX14

📝 官方信息

官方名称:cytochrome c oxidase assembly factor COX14

功能摘要:This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012].

🎯 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

🔗 外部数据库链接