TY - JOUR T1 - MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. JF - Gene Y1 - 2018 A1 - Pecci, Alessandro A1 - Ma, Xuefei A1 - Savoia, Anna A1 - Adelstein, Robert S KW - Animals KW - Cell Line KW - Deafness KW - Hearing Loss, Sensorineural KW - Humans KW - Mice KW - Molecular Motor Proteins KW - Mutation KW - Myosin Heavy Chains KW - Neoplasms KW - Nonmuscle Myosin Type IIA KW - Phosphorylation KW - Renal Insufficiency, Chronic KW - Thrombocytopenia AB -

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 as 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.

VL - 664 U1 - http://www.ncbi.nlm.nih.gov/pubmed/29679756?dopt=Abstract ER -