🧬 基因注释：MYOT
📝 官方信息
官方名称：myotilin
功能摘要：This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
- Mbnl2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录