MYH9 is a large gene spanning more than 106 kilo base pairs on chromosome 22q12.3. It is composed of 41 exons with the first ATG of the open reading frame localized in exon 2 and the stop codon in exon 41. It encodes non-muscle myosin heavy chain IIA (NMHC IIA), a protein of 1,960 amino acids.

Nov 20, 2008 · MYH9 -related disease (MYH9 -RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 μm in diameter), thrombocytopenia (platelet count <150 x 10 9 /L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes.

Mar 30, 2025 · MYH9 (Myosin Heavy Chain 9) is a Protein Coding gene. Diseases associated with MYH9 include Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss and Deafness, Autosomal Dominant 17.

MYH9 -related disorder can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts). Explore symptoms, inheritance, genetics of this condition.

Feb 1, 2024 · MYH9 acts as a tumor promoter in most tumors by activating some classical signaling pathways. The myosin heavy chain 9 (MYH9) gene encodes the heavy chain of non-muscle myosin IIA (NMIIA), which belongs to the myosin II …

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.

The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (subunit) of the myosin IIA protein. There are three forms of myosin II, called myosin IIA, …

Jul 20, 2018 · 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.

May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to MYH9 disorders. The present review summarizes the recent advances in genetic diagnosis and our understanding of the pathogenetic mechanisms of MYH9 mutations and the development of nonhematological complications.

Feb 18, 2021 · Clinical characteristics: MYH9 -related disease (MYH9 -RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 μm in diameter), thrombocytopenia (platelet count <150 x 10 9 /L), and aggregates of the MYH9 protein in the cytoplasm of ...