🧬 基因注释:SGCD
📝 官方信息
官方名称:sarcoglycan delta
功能摘要:The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.298 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- GRSF1 综合评分: 0.248 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Srsf4 综合评分: 0.150 · 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
- CPSF1 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Larp7 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
- Rbpms 综合评分: 0.100 · 证据 1 条
- Srsf7 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