|Tested species reactivity||Human, Mouse, Rat|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Synthesized peptide derived from N-terminal of human GTF2IRD1.|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS, pH 7.4, with 50% glycerol|
|Contains||0.02% sodium azide|
|Tested Applications||Dilution *|
|Western Blot (WB)||1:500-1:3000|
* Suggested working dilutions are given as a guide only. It is recommended that the user titrate the product for use in their own experiment using appropriate negative and positive controls.
The antibody detects endogenous levels of total GTF2IRD1 protein.
Williams-Beuren syndrome (WBS) is a developmental disorder caused by the hemizygous microdeletion on chromosome 7q11.23. WBS is an autosomal dominant genetic condition that is characterized by physical, cognitive and behavioral traits. The physical traits associated with WBS include facial dysmorphology, vascular stenoses, growth deficiencies, dental anomalies and neurologic and musculoskeletal abnormalities. Mild retardation, a weakness in visual-spatial skills, anxiety and a short attention span are typical cognitive and behavioral traits of WBS patients. The WBSCR11 gene is located within the WBS deletion and may contribute to the developmental symptoms found in WBS because of a loss of the encoded transcription factor. WBSCR11 is also designated GRF2IRD1, GTF3, Cream1 and MusTRD1 in human and BEN in mouse, due to slight differences in gene structure. WBSCR11 is expressed in all adult tissues as several variants and has discrete spatial and temporal expression during embryogenesis.
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