2008年11月20日 · 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.

2024年12月25日 · 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.

2024年2月1日 · 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 is a large gene localized on chromosome 22q12.3, spanning more than 106 kbp and composed of 41 exons. The open reading frame, spread from exon 2 to exon 41, encodes a protein of 1,960 amino acids, the non-muscle myosin heavy chain IIA (NMHC IIA) (Figure 1A).

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.

MYH9 is a novel cancer stem cell marker and prognostic indicator in esophageal cancer that promotes oncogenesis through the PI3K/AKT/mTOR axis. Long Noncoding RNA TPRG1-AS1 Suppresses Migration of Vascular Smooth Muscle Cells and Attenuates Atherogenesis via Interacting With MYH9 Protein.

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.

Myosin heavy chain 9 (MYH9) encodes a protein called non-muscle myosin II (NMM-II), which belongs to the myosin superfamily. NMM-II is a hexamer composed of 2 heavy chains (220 kDa), 2 regulatory light chains (RLC, 20 kDa), and 2 essential light chains (ELC, 17 kDa).

2018年7月20日 · 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.