SpliceAtlasDB
← 返回上一页

🧬 基因注释:CHCHD3

📝 官方信息

官方名称:coiled-coil-helix-coiled-coil-helix domain containing 3

功能摘要:The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015].

🎯 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