GTF2IRD1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	Western blot: 1/500-1/1000.
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide, corresponding to amino acids 63-112 of Human WBSCR11.
Specificity	This antibody detects endogenous levels of WBSCR11 protein. (region surrounding Lys94)
Formulation	Phosphate buffered saline (PBS), pH~7.2 State: Aff - Purified State: Liquid purified Ig fraction (> 95% pure by SDS-PAGE) Preservative: 0.05% Sodium Azide
Concentration	1.0 mg/ml
Purification	Affinity Chromatography using epitope-specific immunogen
Conjugation	Unconjugated
Storage Condition	Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing.
Predicted Protein Size	~106 kDa
Gene Name	GTF2I repeat domain containing 1
Database Link	Entrez Gene 9569 Human UniProt ID Q9UHL9
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.
Synonyms	General transcription factor III, USE B1-binding protein, MusTRD1/BEN, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12, GTF2I repeat domain-containing protein 1
Reference Data

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