🧬 基因注释:PDLIM3
📝 官方信息
官方名称:PDZ and LIM domain 3
功能摘要:The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- Mbnl2 综合评分: 0.298 · 证据 1 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- FUBP3 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- U2af2 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