🧬 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
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.336 · 证据 1 条
- RBM15 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM39 综合评分: 0.250 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rnps1 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录