Orders Processing,
Shipping & Receiving,
Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
Production Lab
Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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.
Gene Name: | Wiskott-Aldrich syndrome |
Synonyms: | WAS, Eczema-thrombocytopenia, IMD2, SCNX, WASP, THC, THC1, Wiskott-Aldrich syndrome, Thrombocytopenia 1 (X-linked) |
Target Sequences: | NM_000377 NP_000368.1 P42768 |
If you do not find the reagent or information you require, please contact Customer.Support@LSBio.com to inquire about additional products in development.