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MYBPC1
myosin binding protein C, slow type
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 |
Publications (1)
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