Myosin binding protein C, cardiac


Myosin binding protein C, cardiac
Myosin binding protein C, cardiac

PDB rendering based on 1gxe.
Identifiers
Symbols MYBPC3; CMH4; DKFZp779E1762; FHC; MYBP-C
External IDs OMIM600958 MGI102844 HomoloGene215 GeneCards: MYBPC3 Gene
RNA expression pattern
PBB GE MYBPC3 208040 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4607 17868
Ensembl ENSG00000134571 ENSMUSG00000002100
UniProt Q14896 Q3TF37
RefSeq (mRNA) NM_000256 NM_008653.2
RefSeq (protein) NP_000247 NP_032679.2
Location (UCSC) Chr 11:
47.35 – 47.37 Mb
Chr 2:
90.96 – 90.98 Mb
PubMed search [1] [2]

Cardiac Myosin binding protein-C (cMyBP-C), also known as MYBPC3, is a protein which in humans is encoded by the MYBPC3 gene.[1][2][3]

Contents

Function

MYBPC3 encodes the cardiac isoform of myosin-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.[1]

Clinical significance

Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy.[4]

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.[5]

References

  1. ^ a b "Entrez Gene: MYBPC3 myosin binding protein C, cardiac". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4607. 
  2. ^ Gautel M, Zuffardi O, Freiburg A, Labeit S (May 1995). "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?". EMBO J. 14 (9): 1952–60. PMC 398294. PMID 7744002. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=398294. 
  3. ^ Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D (July 1993). "Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11". Nat. Genet. 4 (3): 311–3. doi:10.1038/ng0793-311. PMID 8358441. 
  4. ^ Cardim N, Perrot A, Santos S, Morgado P, Pádua M, Ferreira S, Reis RP, Monteiro C, Ferreira T, Correia JM, Osterziel KJ (December 2005). "Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene". Rev Port Cardiol 24 (12): 1463–76. PMID 16566405. 
  5. ^ Dhandapany1 PS, et al. (January 2009). "A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia". Nature Genetics 41 (2): 187. doi:10.1038/ng.309. PMC 2697598. PMID 19151713. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2697598. 

Further reading

External links



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