RAC2 Human

RAC2 is a member of the Rho family of GTPases, which are small signaling G proteins. These proteins play a crucial role in various cellular processes, including actin cytoskeleton reorganization, cell migration, and gene transcription. RAC2 is specifically expressed in hematopoietic cells, which are the cells responsible for the formation of blood cells.

RAC2 shares 92% amino acid identity with RAC1, another member of the Rho family of GTPases. Despite their similarities, RAC2 has distinct functions, particularly in the immune system. RAC2 is a critical regulator of the NADPH oxidase complex in neutrophils, which is essential for the respiratory burst that produces reactive oxygen species to kill pathogens .

RAC2 is predominantly expressed in neutrophils, a type of white blood cell that plays a key role in the body’s defense against infections. It is involved in the activation of the NADPH oxidase complex, which generates superoxide, a reactive oxygen species that is used to destroy invading pathogens. In the absence of RAC2, neutrophils show a significant reduction in superoxide production, leading to impaired immune responses .

Mutations in the RAC2 gene have been associated with various primary immunodeficiencies. These mutations can lead to defects in neutrophil function, resulting in increased susceptibility to infections. For example, dominant negative mutations in RAC2 can cause granulocyte defects, while dominant activating mutations can lead to combined immunodeficiency .

Research on RAC2 has provided valuable insights into the regulation of the immune system and the development of immunodeficiencies. Understanding the role of RAC2 in neutrophil function has potential therapeutic implications, particularly in the treatment of immune disorders and infections. Recombinant RAC2 proteins are used in research to study these mechanisms and to develop potential therapeutic strategies .