Gene:
Wolf-Hirschhorn syndrome candidate 1
Gene ID:
194196
Symbol:
WHSC1
Species:
1000
Description:
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. This gene contains 25 exons. Alternative splicing of this gene generates nine transcript variants, which encode four different isoforms.