🧬 基因注释：PLP1
📝 官方信息
官方名称：proteolipid protein 1
功能摘要：This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015].
🎯 作为靶基因的剪接因子
- QKI 综合评分: 0.521 · 证据 1 条
- Nova2 综合评分: 0.324 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.212 · 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
- Qk 综合评分: 0.157 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录