Anti-WBSCR11 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
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GTF2IRD1
Host
Storage
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Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
Clonality
Clone Number
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Isotype
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IgG
Reactivity
Application
Application Details
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WB: 1/500-1/1000
Immunogen
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Synthetic peptide corresponding to Human WBSCR11.
Molecular Weight
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Calculated MW: 106kDa
Formulation
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1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2.
Form
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Liquid
Gene ID
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9569
Uniprot ID
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Q9UHL9
Background
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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.
Research Area
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Synonyms
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General transcription factor II-I repeat domain-containing protein 1; GTF2I repeat domain-containing protein 1; General transcription factor III; MusTRD1/BEN; Muscle TFII-I repeat domain-containing protein 1; Slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein; GTF2IRD1; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12