Product Name :
WBSCR11 (K94) Peptide Applications :
Blocking 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. Alternative Name :
General transcription factor 3C polypeptide 3; TFIIIC102; Transcription factor IIIC 102 kDa subunit; TFIIIC-gamma; Transcription factor IIIC gamma subunit Swiss-Prot :
Q9UHL9 Product :
1 mg/ml in DI water. Purification&Purity :
Synthetic peptide WBSCR11 (K94). (Note: the amino acid sequence is proprietary). The purity is > 98%. Storage&Stability :
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles. Specificity :
This peptide can be used with studies using BS2161 WBSCR11 (K94) pAb.
WBSCR11 (K94) Peptide Applications :
Blocking 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. Alternative Name :
General transcription factor 3C polypeptide 3; TFIIIC102; Transcription factor IIIC 102 kDa subunit; TFIIIC-gamma; Transcription factor IIIC gamma subunit Swiss-Prot :
Q9UHL9 Product :
1 mg/ml in DI water. Purification&Purity :
Synthetic peptide WBSCR11 (K94). (Note: the amino acid sequence is proprietary). The purity is > 98%. Storage&Stability :
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles. Specificity :
This peptide can be used with studies using BS2161 WBSCR11 (K94) pAb.
Blocking peptide available as BS2161PP