MYBPC2

[5] 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.

[5] This article incorporates text from the United States National Library of Medicine, which is in the public domain.