MYH9: Structure, functions and role of non-muscle myosin IIA in human disease

Alessandro Pecci, Xuefei Ma, Anna Savoia, Robert S Adelstein

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)152-167
Number of pages16
JournalGene
Volume664
DOIs
Publication statusPublished - Jul 20 2018

Keywords

  • Animals
  • Cell Line
  • Deafness/genetics
  • Hearing Loss, Sensorineural/genetics
  • Humans
  • Mice
  • Molecular Motor Proteins/chemistry
  • Mutation
  • Myosin Heavy Chains/chemistry
  • Neoplasms/genetics
  • Nonmuscle Myosin Type IIA/chemistry
  • Phosphorylation
  • Renal Insufficiency, Chronic/genetics
  • Thrombocytopenia/congenital

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