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Gene Symbol |
MYH11 |
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Aliases |
AAT4, FAA4, SMHC, SMMHC |
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Entrez Gene ID |
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Gene Name |
Myosin heavy chain 11 |
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Chromosomal Location |
16p13.11 |
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HGNC ID |
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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. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Myosin-11, epididymis secretory sperm binding protein, myosin heavy chain, smooth muscle isoform, myosin, heavy chain 11, smooth muscle, myosin, heavy polypeptide 11, smooth muscle |
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Function |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000361021 |
P60484 |
P60484 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Cardiovascular Diseases |
| Aortic Aneurysm |
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| Tricuspid Valve Insufficiency |
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| Arteriosclerosis |
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| Aortic root dilatation |
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| Left ventricular abnormality |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Marfan Syndrome |
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| Digestive System Diseases |
| Megaduodenum and-or Megacystis |
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| Endocrine System Diseases |
| PCOS |
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| Eye Diseases |
| Myopia |
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| Neoplasms |
| Leukemia |
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| Myeloid Leukemia |
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References |
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| Corton Marta, Botella-Carretero Jose I, Benguria Alberto, Villuendas Gemma, Zaballos Angel, San Millan Jose L, Escobar-Morreale Hector F, Peral Belen |
| Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas and Universidad Autonoma de Madrid, E-28029 Madrid, Spain. |
| J Clin Endocrinol Metab. 2007 Jan;92(1):328-37. doi: 10.1210/jc.2006-1665. Epub |
Abstract
CONTEXT: The polycystic ovary syndrome (PCOS) is frequently associated with visceral obesity, suggesting that omental adipose tissue might play an important role in the pathogenesis of the syndrome. OBJECTIVE: The objective was to study the expression profiles of omental fat biopsy samples obtained from morbidly obese women with or without PCOS at the time of bariatric surgery. DESIGN: This was a case-control study. SETTINGS: We conducted the study in an academic hospital. PATIENTS: Eight PCOS patients and seven nonhyperandrogenic women submitted to bariatric surgery because of morbid obesity. INTERVENTIONS: Biopsy samples of omental fat were obtained during bariatric surgery. MAIN OUTCOME MEASURE: The main outcome measure was high-density oligonucleotide arrays. RESULTS: After statistical analysis, we identified changes in the expression patterns of 63 genes between PCOS and control samples. Gene classification was assessed through data mining of Gene Ontology annotations and cluster analysis of dysregulated genes between both groups. These methods highlighted abnormal expression of genes encoding certain components of several biological pathways related to insulin signaling and Wnt signaling, oxidative stress, inflammation, immune function, and lipid metabolism, as well as other genes previously related to PCOS or to the metabolic syndrome. CONCLUSION: The differences in the gene expression profiles in visceral adipose tissue of PCOS patients compared with nonhyperandrogenic women involve multiple genes related to several biological pathways, suggesting that the involvement of abdominal obesity in the pathogenesis of PCOS is more ample than previously thought and is not restricted to the induction of insulin resistance. |
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