PrimePCR™ Probe Assay: WAS, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0025099
Assay Design:   Exonic
Chromosome Location:   X:48546689-48546812question
Amplicon Length:   94
Splice Variants Targeted:   ENST00000376701

Gene Information

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]

Gene Symbol:   WAS
Gene Name:   Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Aliases:   IMD2, THC, THC1, WASP
RefSeq:   NC_000023.10 NG_007877.1 NT_079573.4
Ensembl:   ENSG00000015285
Entrez:   7454
Chromosome Mapping:   Xp11.4-p11.21

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