MYBPC2

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]

Description

Myosin binding protein C2

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19 (50432892 - 50466321)

Ensembl ID

ENSG00000086967  (ver. 103.38)

Orthologs

Mouse Mybpc2: ENSMUSG00000038670

UniProt

Q14324

neXtProt

NX_Q14324

Human splice variants
Mouse splice variants

Protein structure