基因注释：MYBPC3
官方信息
官方名称：myosin binding protein C3
功能摘要：MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022].
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