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anti-Human WAC Antibodies:
anti-Mouse (Murine) WAC Antibodies:
anti-Rat (Rattus) WAC Antibodies:
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Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders.
De novo WAC loss-of-function mutations were identified through exome sequencing of individuals with unexplained intellectual disability.
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 Antibodies) and that this binding is required for autophagosome formation through interacting with GABARAP (show GABARAP Antibodies) regulating its subcellular localization.
The identification of SCOC (show SCOC Antibodies) 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 adapter protein with coiled-coil
, WW domain-containing protein 4
, WW domain containing adaptor with coiled-coil
, WW domain-containing adapter with a coiled-coil region