Background information
FIGNL1 is a 674 amino acid protein belonging to the AAA ATPase family. FIGNL1 exists as a hexamer that undergoes alternative splicing to produce two isoforms. FIGNL1 utilizes magnesium as a cofactor and is phosphorylated upon DNA damage, probably by ATM or ATR. FIGNL1 is suggested to regulate osteoblast proliferation and differentiation. FIGNL1 is encoded by a gene located on human chromosome 7, which consists about 158 milllion bases, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
