Myosin, Heavy Chain 7, Cardiac Muscle, Beta

Alternative Names

  • MYH7
  • Myosin, Cardiac, Heavy Chain, Beta
  • MYHCB
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OMIM Number

160760

NCBI Gene ID

4625

Uniprot ID

P12883

Length

22,938 bases

No. of Exons

40

Protein Name

Myosin-7

Molecular Mass

223097 Da

Amino Acid Count

1935

Genomic Location

chr14:23,412,739-23,435,676

Gene Map Locus
14q11.2

Description

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000257.4:c.1357C>TLebanonNC_000014.9:g.23429005G>ALikely Pathogenic, PathogenicLikely Pathogenic, PathogenicCardiomyopathy, Familial Hypertrophic, 1NG_007884.1:g.11657C>T; NM_000257.4:c.1357C>T; NP_000248.2:p.Arg453Cys12191362514089
NM_000257.4:c.5702A>TSaudi ArabiaNC_000014.9:g.23413847T>APathogenicLikely PathogenicMyopathy, Myosin Storage, Autosomal DominantNG_007884.1:g.26815A>T; NM_000257.4:c.5702A>T; NP_000248.2:p.His1901Leu12191364914117
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