Williams Beuren Syndrome Chromosome Region 16 (WBSCR16)

WBSCR16 encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

Williams-Beuren syndrome is a developmental disorder associated with haploinsufficiency of multiple genes at 7q11.23. The characterization of WBSCR16, WBSCR17, WBSCR18, WBSCR20A, WBSCR20B, WBSCR20C, WBSCR21, WBSCR22, and WBSCR23, nine novel genes contained in the WBS commonly deleted region or its flanking sequences. They encode an RCC1-like G-exchanging factor, an N-acetylgalactosaminyltransferase, a DNAJ-like chaperone, NOL1/NOP2/sun domain-containing proteins, a methyltransferase, or proteins with no known homologies.