Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
The recommended shelf life for this product is 1 year from date of receipt.
Based on 100% sequence identity, this antibody is predicted to react with Bovine, Dog, Horse, Pig, Panda, Orangutan, Gorilla and Chimpanzee
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: binding factor for early enhancer; general transcription factor 3; General transcription factor II-I repeat domain-containing protein 1; General transcription factor III; GTF2I repeat domain-containing protein 1; Muscle TFII-I repeat domain-containing protein 1; muscle TFII-I repeat domain-containing protein 1 alpha 1; MusTRD1/BEN; Slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein; Williams-Beuren syndrome chromosome region 11
Gene Aliases: BEN; CREAM1; GTF2IRD1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12
UniProt ID: (Human) Q9UHL9
Entrez Gene ID: (Human) 9569
Molecular Function:
general transcription factor
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