This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012].
Emmanuele, Kubota, Garcia-Diaz, Garone, Akman, Sánchez-Gutiérrez, Escudero, Kariya, Homma, Tanji, Quinzii, Hirano: "Fhl1 W122S causes loss of protein function and late-onset mild myopathy." in: Human molecular genetics, Vol. 24, Issue 3, pp. 714-26, (2015) (PubMed).
Aliases for MYBPC2 抗体
myosin binding protein C, fast-type (Mybpc2) 抗体 myosin binding protein C, fast type (MYBPC2) 抗体 myosin-binding protein C, fast-type (LOC520988) 抗体 myosin binding protein C, fast type (Mybpc2) 抗体 myosin binding protein C, fast type b (mybpc2b) 抗体 im:7137115 抗体 im:7150089 抗体 MYBPC 抗体 MYBPCF 抗体 zgc:110761 抗体