MYH7


MYH7
Myosin, heavy chain 7, cardiac muscle, beta

PDB rendering based on 2fxm.
Identifiers
Symbols MYH7; CMD1S; CMH1; DKFZp451F047; MGC138376; MGC138378; MPD1; MYHCB; SPMD; SPMM
External IDs OMIM160760 MGI2155600 HomoloGene68044 GeneCards: MYH7 Gene
RNA expression pattern
PBB GE MYH7 204737 s at tn.png
PBB GE MYH7 216265 x at tn.png
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

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


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Myosin — Part of the myosin II structure. Atoms in the heavy chain are colored red on the left hand side, and atoms in the light chains are colored orange and yellow. Myosins comprise a family of ATP dependent motor proteins and are best known for their… …   Wikipedia

  • List of human genes — Contents 1 Genes notable for their function 2 Genes that have attracted media attention 3 Genes causing heredit …   Wikipedia

  • Myopathie Distale De Type Laing — Autre nom Myopathie distale de type 1 Référence MIM …   Wikipédia en Français

  • Myopathie distale de type Laing — Pour les articles homonymes, voir Laing. Myopathie distale de type Laing Référence MIM 160500 Transmission Dominante Chromosome …   Wikipédia en Français

  • Myopathie distale de type laing — Autre nom Myopathie distale de type 1 Référence MIM …   Wikipédia en Français

  • Microtubule — Space filling model of a microtubule segment derived from cryo electron microscopy. The protofilaments are seen running along the axis of the segment. The microtubule (+) end is towards the top of the image.[1] Microtubules are a component of the …   Wikipedia

  • Keratin — Not to be confused with kerogen, carotene, chitin, or creatine. Microscopy of keratin filaments inside cells. Keratin refers to a family of fibrous structural proteins. Keratin is the key structural material making up the outer layer of human… …   Wikipedia

  • Cytoskeleton — The eukaryotic cytoskeleton. Actin filaments are shown in red, microtubules in green, and the nuclei are in blue. The cytoskeleton (also CSK) is a cellular scaffolding or skeleton contained within a cell s cytoplasm and is made out of protein.… …   Wikipedia

  • Microfilament — Actin cytoskeleton of mouse embryo fibroblasts, stained with Fluorescein isothiocyanate phalloidin Microfilaments ( or actin filaments) are the thinnest filaments of the cytoskeleton, a structure found in the cytoplasm of all eukaryotic cells.… …   Wikipedia

  • Motor unit — ”A motor unit is a single α motor neuron and all of the corresponding muscle fibers it innervates; all of these fibers will be of the same type (either fast twitch or slow twitch). When a motor unit is activated, all of its fibers contract.… …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.