MYH6 myosin heavy chain 6
Gene ID: 4624, updated on 4-Jan-2025Gene type: protein coding
Also known as: ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC
- See all available tests in GTR for this gene
- Go to complete Gene record for MYH6
- Go to Variation Viewer for MYH6 variants
Summary
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atrial septal defect 3 | See labs |
| Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. GeneReviews: Not available | |
| Dilated cardiomyopathy 1EE | See labs |
| Genome-wide association analysis identifies multiple loci related to resting heart rate. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 1 | See labs |
| Hypertrophic cardiomyopathy 14 | See labs |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available | |
| Sick sinus syndrome 3, susceptibility to | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (23381987..23408273, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYH6 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
- MYH6 database
- 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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