WHSC1 (Wolf-Hirschhorn syndrome candidate 1)

GWB-CAFB80

1:12500

Probable histone methyltransferase (By similarity). May act as a transcription regulator that binds DNA and suppresses IL5 transcription.

Nucleus.

Widely expressed.

A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4; 14)(p16. 3; q32. 3) with IgH.

Belongs to the histone-lysine methyltransferase family. SET2 subfamily.

Contains 1 HMG box DNA-binding domain.

Contains 1 post-SET domain.

Contains 1 SET domain. Summary: This protein is 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 protein 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 protein contains 25 exons. Alternative splicing of this gene generates nine transcript variants which encode four different isoforms. Santra. M. . et al. . (2003) Blood 101 (6). 2374-2376.