Rabbit anti-Human WASP Polyclonal Antibody

Uniprot Id

P42768

Target Species

Human

Target Name

WAS

Target Full Name

Actin nucleation-promoting factor WAS

Target Function

Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria. In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs).

Target Involvement

Wiskott-Aldrich syndrome (WAS); Thrombocytopenia 1 (THC1); Neutropenia, severe congenital, X-linked (XLN)

Target Subcellular Location

Cytoplasm, cytoskeleton. Nucleus.

Target Tissue Specificity

Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.

Target Research Area

Signal Transduction

Target Synonyms

Eczema thrombocytopenia; IMD2; SCNX; THC; THC1; Thrombocytopenia 1 (X linked); U42471; Was; WASp; WASP_HUMAN; Wiskott Aldrich syndrome (eczema thrombocytopenia); Wiskott Aldrich syndrome; Wiskott Aldrich syndrome protein; Wiskott-Aldrich syndrome protein

Target Background

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.