MYBPC2
Description
The MYBPC2 (myosin binding protein C2) is a protein-coding gene located on chromosome 19.
The MYBPC2 gene encodes a protein called Myosin Binding Protein C, fast type, which is part of the myosin-binding protein C family. This family includes three main isoforms: fast, slow, and cardiac types. Each isoform is a protein that interacts with myosin, found in the A bands of striated muscle, specifically in the region where muscle fibers connect to each other (cross-bridge-bearing zone). The MYBPC2 gene produces the fast-type isoform. Mutations in genes encoding the slow and cardiac-type isoforms have been linked to genetic disorders: distal arthrogryposis, type 1 (slow-type) and hypertrophic cardiomyopathy (cardiac-type).
MYBPC2 is also known as MYBPC, MYBPCF, fsMyBP-C.
