WW domain-containing adapter protein with coiled-coil (WAC)

WW domain-containing adapter protein with coiled-coil (WAC) is a human nuclear protein encoded by the WAC gene and characterized by an internal WW domain and two carboxy-terminal coiled-coil domains[1][3][7]. The WW domain enables WAC to participate in protein-protein interactions, especially with proline-rich linear motifs, and contributes to pathways related to RNA processing, pre-mRNA splicing, and cellular signaling[1][3][7]. The protein has highly conserved regions suggesting additional regulatory functions such as nuclear localization and response to phosphorylation[7]. Loss-of-function mutations in WAC cause DeSanto–Shinawi syndrome, a rare autosomal dominant neurodevelopmental disorder manifesting with facial dysmorphia, cognitive impairment, autism, and ADHD features[7][9]. While WAC is an important structural and functionally pleiotropic nuclear protein, it is not currently considered a direct drug target or therapeutic receptor/enzyme; its primary roles are in basic nuclear protein complexes rather than in extracellular signaling or enzymatic catalysis[1][2][7].

Other names

KIAA1844Wwp4FLJ31290PRO1741BM-016MGC10753DESSHWW domain-containing adapter protein with coiled-coilWW domain-containing adapter with coiled-coilWAC