Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Piazzale Golgi, 27100 Pavia, Italy.
Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg. 10 Room 6C-103B, 10 Center Drive, Bethesda, MD 20892-1583, USA.
Gene. 2018 Jul 20;664:152-167. doi: 10.1016/j.gene.2018.04.048. Epub 2018 Apr 19.
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.
MYH9 基因编码非肌肉肌球蛋白 IIA 的重链，这是一种广泛表达的细胞质肌球蛋白，参与需要产生细胞内化学机械力和肌动球蛋白细胞骨架易位的各种过程。非肌肉肌球蛋白 IIA 的功能受其 20kDa 轻链、重链的磷酸化以及与其他蛋白质的相互作用调节。MYH9 的变体导致常染色体显性遗传疾病，称为 MYH9 相关疾病，并且可能涉及其他疾病，如慢性肾脏病、非综合征性耳聋和癌症。本综述讨论了 MYH9 基因及其蛋白的结构，以及非肌肉肌球蛋白 IIA 的调节和生理功能，特别参考了胚胎发育。此外，该综述还重点介绍了目前关于 MYH9 变体在人类疾病中的作用的知识。
