🧬 基因注释：TIMM8A
📝 官方信息
官方名称：translocase of inner mitochondrial membrane 8A
功能摘要：This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- RBFOX2 综合评分: 0.398 · 证据 2 条
- fus 综合评分: 0.398 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- Rbmx 综合评分: 0.244 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- UPF1 综合评分: 0.198 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录