Myosin-binding protein C, slow-type (MYBPC1)

Myosin-binding protein C, slow-type (MYBPC1) is a sarcomeric accessory protein primarily expressed in slow skeletal muscle fibers and encoded by the MYBPC1 gene[2][3][6]. It localizes to the C-zone of the sarcomeric A-band, where it interacts with both thick (myosin) and thin (actin) filaments, and titin, contributing to the regulation of actomyosin crossbridge cycling, maintenance of sarcomere structural integrity, and modulation of muscle contraction[3][2]. MYBPC1 is phosphorylated by protein kinases which can alter its interaction with contractile elements and modulate its regulatory role. Mutations in MYBPC1 are now established as causes of inherited skeletal muscle diseases such as distal arthrogryposis and congenital myopathy (including Myotrem myopathy), often through dominant negative effects, manifesting as joint contractures, muscle hypotonia, tremors, and variable skeletal deformities[2][3][5][6]. Currently, MYBPC1 is not a recognized therapeutic target in drug development, but genetic analysis is crucial for diagnosis and prognosis of relevant myopathies.

Other names

Myosin binding protein C1Myosin-binding protein C, slow-typeMYBPC1MYBPCSSlow MyBP-CssMyBP-CC-protein, skeletal muscle slow isoformslow skeletal-type muscle myosin-binding-protein CCMYO16CMYP16LCCS4MYBPCCMYOTREM

Not applicable; no therapies are known that directly target MYBPC1/protein-C, slow-type as a druggable molecule