Bio Background |
This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. |
Bio References |
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) : Narita, T., et al. Mol. Cell 26(3):349-365(2007) Olsen, J.V., et al. Cell 127(3):635-648(2006) Beausoleil, S.A., et al. Nat. Biotechnol. 24(10):1285-1292(2006) Ping, Y.H., et al. J. Biol. Chem. 276(16):12951-12958(2001) |