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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
Data show that WAC directly binds to GM130 (show GOLGA2 Proteins) and that this binding is required for autophagosome formation through interacting with GABARAP (show GABARAP Proteins) regulating its subcellular localization.
The identification of SCOC (show SCOC Proteins) and WAC as novel regulatory proteins with diverse functions in autophagy contributes towards a fuller understanding of autophagosome formation.
The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants.
WW domain containing adaptor with coiled-coil
, WW domain-containing adapter with a coiled-coil region
, WW domain-containing adapter protein with coiled-coil
, WW domain-containing protein 4