基因注释：UNC80
官方信息
官方名称：unc-80 subunit of NALCN channel complex
功能摘要：The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016].
作为靶基因的剪接因子
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录