GTF2IRD1 Antibodies

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.

Synonyms

1700012P16Rik; Alb/c-myc line 166.8; Alb-c-myc line 166.8; BEN; Binding factor for early enhancer; c-myc line 166.8; CREAM1; ESTM9; general transcription factor 3; general transcription factor II I repeat domain-containing 1; General transcription factor III; general transcription factor II-I repeat domain-containing protein 1; GTF2I repeat domain containing 1; GTF2I repeat domain-containing 1; GTF2I repeat domain-containing protein 1; Gtf2il; Gtf2ird1; GTF3; hMusTRD1alpha1; Muscle TFII-I repeat domain-containing protein 1; muscle TFII-I repeat domain-containing protein 1 alpha 1; MUSTRD1; MusTRD1/BEN; RBAP2; slow-muscle-fiber enhancer-binding protein; Tg(Alb1-Myc)166.8Sst; transcription factor GTF3 alpha 2; transcription factor GTF3 gamma 2; USE B1-binding protein; WBS; WBSCR11; WBSCR12; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein; Williams-Beuren syndrome chromosome region 11; X83320