The MYH7 gene homepage
| General information |
| Gene symbol |
MYH7 |
| Gene name |
myosin, heavy chain 7, cardiac muscle, beta |
| Chromosome |
14 |
| Chromosomal band |
q11.2-q13 |
| Imprinted |
- |
| Genomic reference |
NG_007884.1 |
| Transcript reference |
NM_000257.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
559 |
| Unique public DNA variants reported |
330 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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. [provided by RefSeq, Jul 2008]
Also known as: CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB |
| Date created |
May 01, 2013 |
Active transcripts
| Copyright & disclaimer |
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