基因注释：SH3TC2
官方信息
官方名称：SH3 domain and tetratricopeptide repeats 2
功能摘要：This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008].
作为靶基因的剪接因子
- HNRNPA2B1 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
- FUS 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.224 · 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
- Rbm7 综合评分: 0.100 · 证据 1 条
- Srsf7 综合评分: 0.100 · 证据 1 条
- YBX1 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