期刊
GENE
卷 664, 期 -, 页码 152-167出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2018.04.048
关键词
MYH9 gene; Non-muscle myosin; Class II myosin; MYH9-related disease; Cell-cell adhesion; Mouse models; Actin-myosin cytoskeleton; Inherited thrombocytopenia; Kidney disease; Deafness; Tumor suppressor
资金
- Telethon Foundation [GGP17106]
- Fondazione IRCCS Policlinico San Matteo
- NHLBI Division of Intramural Research, NIH, Bethesda MD
- IRCCS Burlo Garofolo
The MYH9 gene encodes the heavy chain of non-muscle myosin IIA, a widely expressed cytoplasmic myosin that participates in a variety of processes requiring the generation of intracellular chemomechanical force and translocation of the actin cytoskeleton. Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with other proteins. Variants of MYH9 cause an autosomal-dominant disorder, termed MYH9-related disease, and may be involved in other conditions, such at chronic kidney disease, non-syndromic deafness, and cancer. This review discusses the structure of the MYH9 gene and its protein, as well as the regulation and physiologic functions of non-muscle myosin IIA with particular reference to embryonic development. Moreover, the review focuses on current knowledge about the role of MYH9 variants in human disease.
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