Gene:
Williams Beuren syndrome chromosome region 22
Gene ID:
198729
Symbol:
WBSCR22
Species:
1000
Description:
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.