GTF2IRD2 alpha Antibody / GTF2IRD2

The TFII-I family contains two highly homologous 949 amino acid proteins, GTF2IRD2 (also called GTF2IRD2 alpha and GTF2IRD2A) and GTF2IRD2B. Localizing to the nucleus, these proteins are ubiquitously expressed and contain two GTF2I- like repeats. Encoded by a gene mapping to human chromosome 7q11.23, GTF2IRD2 and GTF2IRD2B are located in the Williams-Beuren syndrome (WBS) critical region. The deletion of genes located within this region results in WBS, possibly due to the unequal crossing over of highly homologous low-copy repeat sequences that flank the deleted region. WBS is an autosomal dominant genetic condition that is characterized by physical, cognitive and behavioral traits including facial dysmorphology, vascular stenoses, growth deficiencies, dental anomalies and neurologic and musculoskeletal abnormalities.