WBSCR11 Background Information 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. The amino terminus of WBSCR11 interacts with transcriptional machinery proteins, while the carboxy terminus has been shown to bind the retinoblastoma protein to possibly regulate the cell cycle.
WBSCR11 (GTF5I102)
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WBSCR11 (GTF5I102): sc-81425 Western Blot analysis of human recombinant WBSCR11 fusion protein.
WBSCR11 (GTF5I102): sc-81425 Western Blot analysis of WBSCR11 expression in HeLa whole cell lysate.
