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MYBPC2 is 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.
Gene Name: | myosin binding protein C, fast type |
Synonyms: | MYBPC2, MYBPCF, Fast MyBP-C, MYBPC |
Target Sequences: | NM_004533 NP_004524.3 Q14324 |
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