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MYBPC1

Official Full Name
myosin binding protein C1
Organism
Homo sapiens
GeneID
4604
Background
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]
Synonyms
LCCS4; CMYO16; CMYP16; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C;

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