WASP family proteins: Molecular mechanisms and implications in human disease

Abstract

Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic mutations or misregulation of these proteins are tightly associated with many diseases. The WASP-family proteins act by transmitting various upstream signals to their conserved WH2-Central-Acidic (WCA) peptide sequence at the C-terminus, which in turn binds to the Arp2/3 complex to stimulate the formation of branched actin networks at membranes. Despite this common feature, the regulatory mechanisms and cellular functions of distinct WASP-family proteins are very different. Here, we summarize and clarify our current understanding of WASP-family proteins and how disruption of their functions is related to human disease.

Keywords: Actin; Arp2/3; Cyfip; HEM; JMY; SCAR; SHRC; SWIP; Sra1; Strumpellin; VCA; WASH; WASP; WAVE; WCA; WHAMM; WHIMP; WRC; Wiskott-Aldrich syndrome.