Gene:
Williams Beuren syndrome chromosome region 14
Gene ID:
198099
Symbol:
WBSCR14
Species:
1000
Description:
This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. It may play a role in cell proliferation and/or differentiation. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. This gene contains 17 exons; its alternative splicing generates 5 transcript variants.