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MYBPC1 is 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.
Gene Name: | myosin binding protein C, slow type |
Synonyms: | MYBPC1, MYBPCS, MYBPCC, LCCS4, Slow MyBP-C, Slow-type, Skeletal muscle C-protein |
Target Sequences: | NM_002465 NP_002456.2 Q00872 |
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