🧬 基因注释：COA5
📝 官方信息
官方名称：cytochrome c oxidase assembly factor 5
功能摘要：This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- Mbnl2 综合评分: 0.386 · 证据 1 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- Srsf1 综合评分: 0.274 · 证据 1 条
- Nova2 综合评分: 0.262 · 证据 1 条
- ELAVL3 综合评分: 0.260 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录