Symbol: Name: ID: |
WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) GFS:2500 |
Gene name: | WAS |
Chromosome: | Xp11.4-p11.21 |
Previous Symbols: | IMD2, THC |
Previous Names: | thrombocytopenia 1 (X-linked) |
Aliases: | WASP |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:105059 | Rat Genome Database ID: | |
HGNC ID: | HGNC:12731 | RefSeq IDs: | NM_000377 |
Entrez Gene ID: | 7454 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000034483 | UniProt ID: | P42768 |
UCSC ID: | uc004dkm.3 | OMIM ID: | 300392 |
Pubmed: | PMID7795648 | ||
CCDS IDs: | CCDSCCDS14303.1 |
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. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function.
Products for WAS gene
Catalog | Product Name | Application | Company |
GFS:E02500 | Wiskott-Aldrich syndrome (eczema-thrombocytopenia); ELISA kit | ELISA | n/a |
GFS:A02500 | Wiskott-Aldrich syndrome (eczema-thrombocytopenia); Anti | ANTIBODIES | n/a |
GFS:P02500 | Wiskott-Aldrich syndrome (eczema-thrombocytopenia); Protien | Protien | n/a |