| Modification Notes |
Bcl-7b (B-cell CLL/lymphoma 7B) is a 202 amino acid protein that exists as multiple alternatively spliced isoforms and belongs to the Bcl-7 family. Expressed ubiquitously, Bcl-7b is thought to play a role in the development and progression of lung tumors, suggesting a possible role in cell cycle or apoptotic control. Haploinsufficiency of the Bcl-7b gene is associated with the pathogenesis of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS). Additionally, Bcl-7b may cause an allergic reaction in humans, specifically by binding to IgE in atopic dermatitis patients and functioning as an autoantigen. The gene encoding Bcl-7b maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. |
