| Product description |
The Bloom syndrome gene product is a member of the RecQ helicase protein family. The protein contains 1417 amino acids; including one ATP binding site, one DEAH box, and two putative nuclear localization signals, as well as phosphorylation sites. BLS protein is known to associate and be phosphorylated by the ATR (ataxia telangiectasia, rad3+) protein, in response to genetic stress. The Bloom's syndrome gene product is thought to play a role in the etiology of two major human health problems, each of which is a very common complication of Bloom's syndrome, namely cancer and diabetes.1) Nathan A. Ellis, Joanna Groden,,Tian-Zhang Ye, Joel Straughen, David J. Lennon, Susan Ciocci , Maria Proytcheva and James German The Bloom's syndrome gene product is homologous to RecQ helicases. Cell, (1994) Vol. 83, 655-668 |