MYH7

Myosin, heavy chain 7, cardiac muscle, beta
File:PBB Protein MYH7 image.jpg PDB rendering based on 2fxm.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2fxm​, 2fxo​
Identifiers
Symbols	MYH7 ; CMD1S; CMH1; MGC138376; MGC138378; MPD1; MYHCB
External IDs	Template:OMIM5 Template:MGI HomoloGene: 68044
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MYH7 204737 s at tn.png
File:PBB GE MYH7 216265 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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. 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.

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. PMID 15000344.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• MYH7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)