Myosin-binding protein C, slow-type
Definition:
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Slow skeletal protein that binds to both myosin and actin. In vitro, binds to native thin filaments and modifies the activity of actin-activated myosin ATPase. May modulate muscle contraction or may play a more structural role.
References:
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[1]. Janis Stavusis, et al. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. Ann Neurol. 2019 Jul;86(1):129-142. [Content Brief]
[2]. Vandana Shashi, et al. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. [Content Brief]
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