ATXN7L1 (ataxin-7-like protein 1) is an 833 animo acid protein thatcontains one SCA7 domain. The ATXN7L1 gene isconserved in chimpanzee,canine, mouse, rat and chicken, andmapsto human chromosome 7q22.3. Chromosome 7 is about 158 milllion baseslong, encodes over 1,000 genes and makes up about 5%of the human genome. Chromosome 7 has been linked to osteogenes is imperfecta, Pendred syndrome, lissencephaly,citrullinemia and Shwachman Diamond syndrome. The deletion of a portion of the q armofchromosome
7 is associatedwith Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusualcomfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q armofchromosome 7 are also seen in a number ofmyeloid disordersincluding cases of acutemyelo