WAS : WASP actin nucleation promoting factor
Description
The WAS (WASP actin nucleation promoting factor) is a protein-coding gene located on chromosome X.
The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP relays signals from the cell surface to the actin cytoskeleton, a network of fibers that provides structural support. This signaling triggers cell movement and attachment to other cells and tissues (adhesion). In white blood cells, which fight infection, this signaling allows the actin cytoskeleton to interact with foreign invaders (immune synapse).
WASP, also known as Wiskott-Aldrich syndrome protein, is an effector protein for Rho-type GTPases that regulates actin filament reorganization by interacting with the Arp2/3 complex. This interaction is essential for efficient actin polymerization. WASP plays a role in regulating lymphocyte and platelet function. It also mediates actin filament reorganization and the formation of actin pedestals during infection by pathogenic bacteria. In addition to its function in the cytoplasmic cytoskeleton, WASP promotes actin polymerization in the nucleus, regulating gene transcription and DNA damage repair. It specifically promotes homologous recombination (HR) repair by facilitating nuclear actin polymerization, which drives the movement of double-strand breaks (DSBs).
WAS is also known as IMD2, SCNX, THC, THC1, WASP, WASPA.
Associated Diseases
- Wiskott-Aldrich syndrome
- X-linked severe congenital neutropenia
- Neutropenia, severe congenital, X-linked
- Thrombocytopenia 1
- Severe congenital neutropenia
- X-linked thrombocytopenia
