Gene:
Williams-Beuren syndrome chromosome region 1
Gene ID:
207654
Symbol:
WBSCR1
Species:
1000
Description:
This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants.