🧬 基因注释：ETFA
📝 官方信息
官方名称：electron transfer flavoprotein subunit alpha
功能摘要：ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 证据 2 条
- RBFOX2 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.448 · 证据 1 条
- PTBP1 综合评分: 0.398 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.274 · 证据 1 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 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