靶标:
MYBPC1
产品别名:
LCCS4; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C; MYBPC1; myosin binding protein C1; myosin binding protein C1; myosin-binding protein C, slow-type; myosin binding protein C, slow type; skeletal muscle C-protein; slow MyBP-C; slow skeletal-type muscle myosin-binding-protein C; 慢型肌球蛋白结合蛋白C(MYBPC1); 肌球蛋白结合蛋白C;
背景信息:
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011],