RAC2

RAC2 is a member of the Rac protein family, which is a subfamily of the larger Rho family of GTPases. RAC2, also known as Ras-related C3 botulinum toxin substrate 2, is a protein that in humans is encoded by the RAC2 gene. This protein is involved in a variety of cellular processes, including cell growth, cytoskeletal reorganization, and the activation of protein kinases.

Function[edit | edit source]

RAC2 is a small GTPase that is involved in the regulation of the actin cytoskeleton. It is predominantly expressed in hematopoietic cells and plays a crucial role in phagocytosis and reactive oxygen species production in these cells. RAC2 is also involved in the activation of several protein kinases, including PAK1 and JNK1, which are involved in cell growth and survival.

Clinical significance[edit | edit source]

Mutations in the RAC2 gene have been associated with several diseases. For example, a specific mutation in RAC2 has been identified in patients with neutrophil immunodeficiency syndrome, a rare disorder characterized by recurrent bacterial infections. Other mutations in RAC2 have been linked to autoimmune diseases and cancer.