🧬 基因注释：MYBPC2
📝 官方信息
官方名称：myosin binding protein C2
功能摘要：This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 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