Wiskott-Aldrich Syndrome/WASP (WAS) Antibody – Goat Polyclonal

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

WASP: a member of the Wiskott-Aldrich syndrome (WAS) family of proteins. A cytoplasmic protein expressed exclusively in hematopoietic cells. Transduces signals from surface receptors to the actin cytoskeleton. Associates with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Mutated in Wiskott-Aldrich syndrome, a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia.

Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: Xp11.4-p11.21

Cellular Component: actin cytoskeleton; cytosol; intercellular junction; vesicle membrane

Molecular Function: actin binding; GTPase regulator activity; identical protein binding; phospholipase binding; protein binding; protein kinase binding; SH3 domain binding

Biological Process: actin filament polymerization; actin filament-based movement; actin polymerization and/or depolymerization; blood coagulation; defense response; endosome transport; epidermis development; immune response; protein complex assembly; regulation of catalytic activity; regulation of T cell antigen processing and presentation; T cell activation; T cell receptor signaling pathway

Disease: Neutropenia, Severe Congenital, X-linked; Thrombocytopenia 1