MYH7 myosin heavy chain 7
Gene ID: 4625, updated on 7-Apr-2024Gene type: protein coding
Also known as: CMH1; MPD1; SPMD; SPMM; CMD1S; MYHCB; CMYP7A; CMYP7B
- See all available tests in GTR for this gene
- Go to complete Gene record for MYH7
- Go to Variation Viewer for MYH7 variants
Summary
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 distal myopathy. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital myopathy with fiber type disproportion MedGen: C0546264GeneReviews: Not available | See labs |
| Dilated cardiomyopathy 1S | See labs |
| Genome-wide association analysis identifies multiple loci related to resting heart rate. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 1 | See labs |
| MYH7-related skeletal myopathy | See labs |
| Myopathy, myosin storage, autosomal recessive | See labs |
| Myosin storage myopathy | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-15) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2015-11-15) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (23412740..23435660, complement)
- Total number of exons:
- 40
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYH7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MYH7 homepage - Leiden Muscular Dystrophy pages
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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