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Product Name
WBSCR11 Rabbit pAb
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Gene ID
9569
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SwissProt ID
Q9UHL9
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Gene Name
GTF2IRD1
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Alternative Names
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
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Background
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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Research Field
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Product Categories
Primary antibody
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Host
Rabbit
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Reactivity
Human
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Application
WB
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Dilution Ratio
WB: 1/500-1/1000
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Molecular Weight
Calculated MW: 106kDa
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Clonality
Polyclonal Antibody
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Clonality No.
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Isotype
IgG
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Immunogen
Synthetic peptide corresponding to Human WBSCR11.
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Purification
Affinity Purified
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Conjugation
Unconjugated
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Modification
Unmodified
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Form
Liquid
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Buffer System
1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2.
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Storage
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.