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MYH11 myosin heavy chain 11

Gene ID: 4629, updated on 27-Nov-2024
Gene type: protein coding
Also known as: AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1

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

DescriptionTests
Aortic aneurysm, familial thoracic 4not available
Familial thoracic aortic aneurysm and aortic dissectionnot 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
MedGen: C5543476OMIM: 619351GeneReviews: Not available
not available
Visceral myopathy 2
MedGen: C5543466OMIM: 619350GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2024-09-25)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2024-09-25)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
16p13.11
Sequence:
Chromosome: 16; NC_000016.10 (15703135..15857028, complement)
Total number of exons:
43

Links

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