Version 2.80

Descriptions

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia

The WAS gene (Wiskott-Aldrich syndrome) [HGNC Gene ID:12731] is located on chromosome Xp11.4-p11.21. 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, Jul 2008] [NCBI Gene ID:7454] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
WAS gene
Part Display Name
WAS gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2009-10-29
Construct for LOINC Short Name
WAS gene

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Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen WAS
it-IT Italian (Italy) WAS, gene
Synonyms: Gene WAS
et-EE Estonian (Estonia) WAS geen
tr-TR Turkish (Turkey) WAS geni
zh-CN Chinese (China) WAS 基因
Synonyms: Wiskott-Aldrich syndrome;WAS;维斯科特-奥尔德里奇综合征;Wiskott-Aldrich 综合征;Wiskott-Aldrich 氏综合征;维-奥二氏综合征;维-奥综合征;thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome (eczema-thrombocytopenia);血小板减少 1 (X-连锁), Wiskott-Aldrich 综合征 (湿疹-血小板减少);wiskott-Aldrich syndrome p
ru-RU Russian (Russian Federation) WAS ген
nl-NL Dutch (Netherlands) WAS-gen
Synonyms: WAS gen
el-GR Greek (Greece) Γονίδιο WAS
Synonyms: Γονίδιο WAS