Synonyms:AAT4, ENTREZ:4629, FAA4, HGNC:7569, MIM:160745, MYH11, NM_001040113, NM_001040114, NM_002474, NM_022844, NP_001035202, NP_001035203, NP_002465, NP_074035, SMHC, SMMHC, XM_011522502, XM_017023250, XP_011520804, XP_016878739, myosin heavy chain 11
Omim:OMIM:160745
Nci:C29957
Id:9c2f432e-2f43-5fea-bfae-72f5d5549d4a
Hgnc:HGNC:7569
Description:myosin heavy chain 11
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]