Invitrogen™ MYH9 Recombinant Rabbit Monoclonal Antibody (7I7N0)

Description

Immunogen sequence: YKDQADKAST RLKQLKRQLE EAEEEAQRAN ASRRKLQREL EDATETADAM NREVSSLKNK LRRGDLPFVV PRRMARKGAG DGSDEEVDGK ADGAEAKPAE.

The MYH9 gene, located on chromosome 22q12.3, encodes the heavy chain of non-muscle myosin IIA (NMHC IIA), a critical component of the actin cytoskeleton that plays essential roles in various cellular processes. Structurally, the MYH9 gene spans over 106 kilobases and includes 41 exons that translate into a protein of 1,960 amino acids. This protein is a part of a hexameric complex, which includes two heavy chains, two regulatory light chains, and two essential light chains. The NMHC IIA protein interacts with actin filaments and is involved in cellular activities such as cell migration, adhesion, division, and maintenance of cell shape. Functionally, mutations in MYH9 can result in a spectrum of autosomal dominant disorders collectively known as MYH9-related diseases (MYH9-RD), which include conditions such as May-Hegglin anomaly, Fechtner syndrome, and Epstein syndrome. These disorders are primarily characterized by macrothrombocytopenia (abnormally large platelets) and may lead to other complications such as hearing loss, renal failure, and cataracts later in life. MYH9 is also crucial in hematopoiesis, where its proper function is necessary for the survival and maintenance of hematopoietic stem and progenitor cells (HSPCs). Loss of MYH9 function disrupts normal hematopoiesis, leading to severe blood cell deficiencies and bone marrow failure.