🧬 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
🏥 关联疾病
该基因暂无关联疾病记录