🧬 基因注释：TWNK
📝 官方信息
官方名称：twinkle mtDNA helicase
功能摘要：This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 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
- SRSF9 综合评分: 0.362 · 证据 1 条
- Srsf2 综合评分: 0.362 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Tardbp 综合评分: 0.294 · 证据 1 条
- Rbmx 综合评分: 0.274 · 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
- Rnps1 综合评分: 0.224 · 证据 1 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- EIF4A3 综合评分: 0.162 · 证据 2 条
- U2af2 综合评分: 0.162 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录