RAC2

Description

The RAC2 (Rac family small GTPase 2) is a protein-coding gene located on chromosome 22.

RAC2 (Ras-related C3 botulinum toxin substrate 2) is a small (~21 kDa) signaling G protein (specifically, a GTPase) and is a member of the Rac subfamily of the Rho family of GTPases. It is encoded by the gene RAC2. Members of the Rho family of GTPases appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases.

RAC2 is a small GTPase that cycles between an active GTP-bound state and an inactive GDP-bound state. In its active state, RAC2 binds to effector proteins to regulate cellular processes, including secretion, phagocytosis of apoptotic cells, and epithelial cell polarization. RAC2 also enhances the production of reactive oxygen species (ROS) by NADPH oxidase.

RAC2 is also known as EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2.

Associated Diseases

• Infantile LAD-like disease due to RAC2 deficiency
• Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
• Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
• Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis