Wiskott-Aldrich Syndrome Protein Mouse anti-Human, Unlabeled, Clone: 5A5, BD

Beschreibung

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.