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RESULTS [42 .. 92]
From Wikipedia, the free encyclopedia
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Myosin, heavy chain 7, cardiac muscle, beta
PBB Protein MYH7 image.jpg
PDB rendering based on 2fxm.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MYH7 ; CMD1S; CMH1; 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 Q91Z83
RefSeq (mRNA) NM_000257 NM_080728
RefSeq (protein) NP_000248 NP_542766
Location (UCSC) Chr 14:
23.88 – 23.9 Mb
Chr 14:
54.97 – 54.99 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, but also in skeletal muscles (type I fibers).[1]

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.[2] 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.

Another condition associated to mutations in this gene is paraspinal and proximal muscle atrophy (doi: 10.1016/j.nmd.2013.04.003).

A myopathy caused by a MYH7 mutation in pigs.

References[edit]

Further reading[edit]

  • 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. doi:10.1002/0470029331.ch11. PMID 17019812. 

External links[edit]


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