Gene:
Williams Beuren syndrome chromosome region 20C
Gene ID:
208035
Symbol:
Species:
1000
Description:
This gene shares high sequence similarity with the genes WBSCR20A and WBSCR20B; these three genes are the products of gene duplication during evolution. Alternative splicing of this gene results in four transcript variants encoding different isoforms. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.