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 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.

More than 45 mutations in the MYH9 gene have been found to cause MYH9-related disorder. This disorder is characterized by bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).

MYH9-related disorder is caused by mutations in the MYH9 gene. 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, myosin IIB and myosin IIC.

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the MYH9 gene associated with MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome. See Method Description for additional details.

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.

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 …

MYH9 gene is implicated in May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome which are autosomal dominant macrothrombocytopenias. Myosin heavy polypeptide 9 (MYH9) colocalizes with actin stress fibers in mammalian cells.

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.