MYH7

Myosin, heavy chain 7, cardiac muscle, beta
PDB rendering based on 2fxm.
Available structures PDB 1IK2, 2FXM, 2FXO, 3DTP
Identifiers
Symbols	MYH7; CMD1S; CMH1; DKFZp451F047; MGC138376; MGC138378; MPD1; MYHCB; SPMD; SPMM
External IDs	OMIM: 160760 MGI: 2155600 HomoloGene: 68044 GeneCards: MYH7 Gene
Gene Ontology Molecular function • microfilament motor activity • nucleotide binding • actin binding • protein binding • calmodulin binding • ATP binding • structural constituent of muscle • ATPase activity • actin-dependent ATPase activity • protein homodimerization activity • protein heterodimerization activity Cellular component • nucleus • nucleolus • cytoplasm • muscle myosin complex • focal adhesion • myosin complex • sarcomere • myosin filament Biological process • response to reactive oxygen species • regulation of heart rate • ATP catabolic process • muscle contraction • muscle contraction • adult heart development • muscle filament sliding • ventricular cardiac muscle tissue morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4625	140781
Ensembl	ENSG00000092054	ENSMUSG00000053093
UniProt	P12883	n/a
RefSeq (mRNA)	NM_000257.2	NM_080728.2
RefSeq (protein)	NP_000248.2	NP_542766.1
Location (UCSC)	Chr 14: 23.88 – 23.9 Mb	Chr 14: 55.59 – 55.61 Mb
PubMed search	[1]	[2]

MYH7 is a gene encoding a myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart.

Changes in the relative abundance of MHC-β and MHC-α (MYH6, the fast isoform of cardiac myosin heavy chain) correlate with the contractile velocity of cardiac muscle.^[1] In early fetal development, MHC-β is predominately expressed in the ventricles, while MHC-α is predominantly expressed in the atria. In healthy adult hearts, MHC-α is predominantly expressed in the atria (>90%), while MHC-β (~50%) is expressed in the atria of failing adult hearts. In vitro studies have demonstrated that newly formed cardiac myocytes express MHC-β, and after prolonged (1-5 weeks) contractile activity MHC-α becomes detectable. An allelic variant of this gene is associated with approximately 40% of the cases of Hypertrophic cardiomyopathy (HCM). This condition is an autosomal-dominant disease, in which a single copy of the variant gene causes enlargement of the left ventricle of the heart. Disease onset usually occurs later in life, perhaps triggered by changes in thyroid hormone function and/or physical stress.

References

1. ^ "Entrez Gene: MYH7 myosin, heavy chain 7, cardiac muscle, beta". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4625. 

Further reading

• 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. doi:10.1080/07853890310017161. PMID 15000344. 
• Kamisago M, Schmitt JP, McNamara D et al. (2007). "Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure". Novartis Found. Symp. 274: 176–89; discussion 189–95, 272–6. PMID 17019812. 

External links

• GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview
• GeneReviews/NCBI/NIH/UW entry on Laing Distal Myopathy
• MeSH MYH7+protein,+human