🧬 基因注释：NEFL
📝 官方信息
官方名称：neurofilament light chain
功能摘要：Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.546 · 证据 2 条
- MBNL2 综合评分: 0.436 · 证据 1 条
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- Nova2 综合评分: 0.386 · 证据 1 条
- Tardbp 综合评分: 0.372 · 证据 1 条
- ELAVL3 综合评分: 0.336 · 证据 1 条
- RBM10 综合评分: 0.312 · 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
- SRSF9 综合评分: 0.300 · 证据 1 条
- Mbnl2 综合评分: 0.298 · 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
- MSI1 综合评分: 0.212 · 证据 1 条
- Srsf3 综合评分: 0.212 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录