QuickView for WAS;jsessionid=C334B788719D2D1F44904F62090B5B24 (gene)

Gene Symbol:

WAS Homo sapiens

Full name:

Wiskott-Aldrich syndrome

Synonyms:

IMD2, SCNX, THC, THC1, WASP, WASPA, wiskott-Aldrich syndrome protein, eczema-thrombocytopenia, thrombocytopenia 1 (X-linked)

Genomic Location:

Chr X: 48427153-48434759

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RYTTCCTG_ETS2_B ,  CAGNWMCNNNGAC_UNKNOWN ,  GCGNNANTTCC_UNKNOWN ,  RACCACAR_AML_Q6 ,  MTF1_Q4 ,  ELK1_01 ,  SCGGAAGY_ELK1_02 ,  ELF1_Q6

Cytogenetic Map:

Xp11.23

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