Myosin binding protein C, cardiac
Encyclopedia
Cardiac Myosin binding protein-C (cMyBP-C), also known as MYBPC3, is a protein
which in humans is encoded by the MYBPC3 gene
.
-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. It is found in regularly spaced intervals and is hypothesised to act as like a "barrel hoop" and hold the thick filament together. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP
-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction.
.
A deletion of 25 bp in the gene encoding the MYBPC3 protein is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the MYBPC3 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
MYBPC3 encodes the cardiac isoform of myosinMyosin
Myosins comprise a family of ATP-dependent motor proteins and are best known for their role in muscle contraction and their involvement in a wide range of other eukaryotic motility processes. They are responsible for actin-based motility. The term was originally used to describe a group of similar...
-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. It is found in regularly spaced intervals and is hypothesised to act as like a "barrel hoop" and hold the thick filament together. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP
Cyclic adenosine monophosphate
Cyclic adenosine monophosphate is a second messenger important in many biological processes...
-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction.
Clinical significance
Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathyHypertrophic cardiomyopathy
Hypertrophic cardiomyopathy is a disease of the myocardium in which a portion of the myocardium is hypertrophied without any obvious cause...
.
A deletion of 25 bp in the gene encoding the MYBPC3 protein is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations.