Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency disease caused by mutations in the gene encoding WAS protein (WASP). The disease is characterized by a spectrum of clinical signs, including thrombocytopenia, eczema, susceptibility to opportunistic and pyogenic infections, and B-cell lymphomas associated with Epstein-Barr virus. Furthermore, patients' blood cells display morphological abnormalities that can be associated with an impaired cytoskeleton. WASP is a member of a family of highly conserved proteins that link signaling pathways to the actin cytoskeleton. These members include WASP, N-WASP (neuronal), and SCAR/WAVE isoforms (Suppressor of cAMP Receptor/WASP family Verprolin-homologous protein) that share two main regions of homology: a proline-rich domain and a carboxyl terminal domain that binds to the Arp2/3 complex. The Arp2/3 complex initiates actin filament assembly in motile cells and formation of the immunological synapse between activated T lymphocytes and antigen-presenting cells. WASP is a central regulator of the actin cytoskeleton in hematopoietic cells that is itself regulated by multiple signaling pathways. The 5A5 antibody recognizes human WASP, it does not cross react with N-WASP. It has been reported to detect WASP in lysates of hematopoietic cells and cell lines, except for neutrophils, from normal donors, but not from a group of patients having mutations of the WAS gene. Western Blot analysis of WASP in human histiocytic lymphoma. Lysate from U937 cells (ATCC CRL-1593.2) was probed with Mouse anti-Human WASP monoclonal antibody at titrations of 0.5 (lane 1), 0.25 (lane 2), and 0.125 μg/mL (lane 3). WASP is identified as a band of 60 kDa.
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Storage
4 °C
Storage Comment
Store undiluted at 4°C.
Burns, Cory, Vainchenker, Thrasher: "Mechanisms of WASp-mediated hematologic and immunologic disease." in: Blood, Vol. 104, Issue 12, pp. 3454-62, (2004) (PubMed).
Caron: "Regulation of Wiskott-Aldrich syndrome protein and related molecules." in: Current opinion in cell biology, Vol. 14, Issue 1, pp. 82-7, (2002) (PubMed).
Orange, Ramesh, Remold-ODonnell, Sasahara, Koopman, Byrne, Bonilla, Rosen, Geha, Strominger: "Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 99, Issue 17, pp. 11351-6, (2002) (PubMed).
Target
WASP (WAS)
(Wiskott-Aldrich Syndrome (Eczema-thrombocytopenia) (WAS))