WASF1


Description

The WASF1 (WASP family member 1) is a protein-coding gene located on chromosome 6.

Wiskott–Aldrich syndrome protein family member 1, also known as WASP-family verprolin homologous protein 1 (WAVE1), is a protein that in humans is encoded by the WASF1 gene. The protein encoded by this gene, a member of the Wiskott–Aldrich syndrome protein (WASP) family, plays a critical role downstream of Rac, a Rho-family small GTPase, through its involvement in the WAVE regulatory complex in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott–Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. WASF1 has been shown to interact with BAIAP2 and Profilin 1.

WASF1 is a downstream effector molecule that transmits signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. It promotes the formation of actin filaments and is part of the WAVE complex, which regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization through its interaction with the Arp2/3 complex. As a component of the WAVE1 complex, WASF1 is required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. It is also involved in the regulation of mitochondrial dynamics.

WASF1 is also known as NEDALVS, SCAR1, WAVE, WAVE1.

Associated Diseases



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