🧬 基因注释：DST
📝 官方信息
官方名称：dystonin
功能摘要：This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.496 · 证据 1 条
- fus 综合评分: 0.496 · 证据 1 条
- HNRNPA2B1 综合评分: 0.448 · 证据 2 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- ELAVL3 综合评分: 0.342 · 证据 1 条
- MBNL2 综合评分: 0.324 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录