Myosin binding protein C, cardiac

From Wikipedia, the free encyclopedia

PDB rendering based on 1gxe.

Available structures: 1gxe, 1pd6, 2avg

Identifiers

Symbol(s)

MYBPC3; FHC; CMH4; MYBP-C

External IDs

OMIM: 600958 MGI: 102844 HomoloGene: 215

Gene ontology
Molecular Function:	• actin binding • protein binding • structural constituent of muscle
Cellular Component:	• striated muscle thick filament • actin cytoskeleton
Biological Process:	• regulation of striated muscle contraction • cell adhesion • ventricular cardiac muscle morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000256 (mRNA)
NP_000247 (protein)

NM_008653 (mRNA)
NP_032679 (protein)

Location

Chr 11: 47.31 - 47.33 Mb

Chr 2: 90.92 - 90.94 Mb

Pubmed search

[1]

[2]

Myosin binding protein C, cardiac, also known as MYBPC3, is a human gene.^[1]

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. 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. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYBPC3 myosin binding protein C, cardiac.

[edit] Further reading

Vikstrom KL, Leinwand LA (1996). "Contractile protein mutations and heart disease.". Curr. Opin. Cell Biol. 8 (1): 97–105. PMID 8791411.
Schaub MC, Hefti MA, Zuellig RA, Morano I (1998). "Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms.". Cardiovasc. Res. 37 (2): 381–404. PMID 9614495.
Bonne G, Carrier L, Richard P, et al. (1998). "Familial hypertrophic cardiomyopathy: from mutations to functional defects.". Circ. Res. 83 (6): 580–93. PMID 9742053.
Jääskeläinen P, Miettinen R, Kärkkäinen P, et al. (2004). "Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.". Ann. Med. 36 (1): 23–32. PMID 15000344.
Starr R, Offer G (1978). "The interaction of C-protein with heavy meromyosin and subfragment-2.". Biochem. J. 171 (3): 813–6. PMID 352343.
Moos C, Feng IN (1980). "Effect of C-protein on actomyosin ATPase.". Biochim. Biophys. Acta 632 (2): 141–9. PMID 6448079.
Watkins H, Conner D, Thierfelder L, et al. (1996). "Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.". Nat. Genet. 11 (4): 434–7. doi:10.1038/ng1295-434. PMID 7493025.
Bonne G, Carrier L, Bercovici J, et al. (1996). "Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.". Nat. Genet. 11 (4): 438–40. doi:10.1038/ng1295-438. PMID 7493026.
Gautel M, Zuffardi O, Freiburg A, Labeit S (1995). "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?". EMBO J. 14 (9): 1952–60. PMID 7744002.
Carrier L, Hengstenberg C, Beckmann JS, et al. (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.
Freiburg A, Gautel M (1996). "A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy.". Eur. J. Biochem. 235 (1-2): 317–23. PMID 8631348.
Carrier L, Bonne G, Bährend E, et al. (1997). "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.". Circ. Res. 80 (3): 427–34. PMID 9048664.
Rottbauer W, Gautel M, Zehelein J, et al. (1997). "Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein.". J. Clin. Invest. 100 (2): 475–82. PMID 9218526.
Yu B, French JA, Carrier L, et al. (1998). "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.". J. Med. Genet. 35 (3): 205–10. PMID 9541104.
Moolman-Smook JC, Mayosi B, Brink P, Corfield VA (1998). "Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.". J. Med. Genet. 35 (3): 253–4. PMID 9541115.
Niimura H, Bachinski LL, Sangwatanaroj S, et al. (1998). "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.". N. Engl. J. Med. 338 (18): 1248–57. PMID 9562578.
Richard P, Isnard R, Carrier L, et al. (1999). "Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.". J. Med. Genet. 36 (7): 542–5. PMID 10424815.