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MYH11 myosin heavy chain 11

Gene ID: 4629, updated on 24-Mar-2023
Gene type: protein coding
Also known as: AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1


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

Aortic aneurysm, familial thoracic 4See labs
Familial thoracic aortic aneurysm and aortic dissectionSee labs
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
MedGen: C5543476OMIM: 619351GeneReviews: Not available
See labs
MedGen: C5543466OMIM: 619350GeneReviews: Not available
See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2015-11-12)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2015-11-12)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 16; NC_000016.10 (15703135..15857028, complement)
Total number of exons:


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