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Product Details
PA5-41579
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Synthetic peptide directed towards the C-terminal of human GTF2IRD1 (aa 873-922).
Conjugate
Form
Liquid
Concentration
1 mg/mL
Purification
Protein A
Storage buffer
PBS with 2% sucrose
Contains
0.09% sodium azide
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Shipping conditions
Ambient (domestic); Wet ice (international)
RRID
AB_2576695
Product Specific Information
Peptide sequence: VIINQLQPFA EICNDAKVPA KDSSIPKRKR KRVSEGNSVS SSSSSSSSSS
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Yeast: 79%
Target 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
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
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