WASP/Wiskott-Aldrich syndrome protein Rabbit Polyclonal Antibody (HA500490)

UNIPROT #

P42768

PROTEIN NAME

WASP/Wiskott-Aldrich syndrome protein

SYNONYMS

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

SUBCELLULAR LOCATION

Cytoskeleton, Nucleus.

FUNCTION

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.