MYH11 myosin heavy chain 11
Gene ID: 4629, updated on 3-Nov-2024Gene type: protein coding
Also known as: AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1
- See all available tests in GTR for this gene
- Go to complete Gene record for MYH11
- Go to Variation Viewer for MYH11 variants
Summary
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aortic aneurysm, familial thoracic 4 | not available |
| Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview | not available |
| Genome-wide association of body fat distribution in African ancestry populations suggests new loci. GeneReviews: Not available | |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | not available |
| Visceral myopathy 2 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-09-25) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 16p13.11
- Sequence:
- Chromosome: 16; NC_000016.10 (15703135..15857028, complement)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYH11 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
- 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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