🧬 基因注释：AIFM1
官方名称：apoptosis inducing factor mitochondria associated 1
功能摘要：This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].
- Tardbp 综合评分: 0.490 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 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
- fus 综合评分: 0.300 · 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
- TIA1 综合评分: 0.250 · 证据 1 条
- Rnps1 综合评分: 0.244 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- SAFB2 综合评分: 0.162 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
该基因暂无关联疾病记录