🧬 基因注释:NDUFA12
📝 官方信息
官方名称:NADH:ubiquinone oxidoreductase subunit A12
功能摘要:This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.457 · 证据 1 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- EWSR1 综合评分: 0.348 · 证据 2 条
- TIA1 综合评分: 0.348 · 证据 1 条
- HNRNPL 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
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- U2af2 综合评分: 0.260 · 证据 1 条
- RBM10 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