ATXN7L1 (ataxin-7-like protein 1) is an 833 amino acid protein that contains one SCA7 domain. The ATXN7L1 gene is conserved in chimpanzee, canine, mouse, rat and chicken, and maps to human chromosome 7q22.3. Chromosome 7 is about 158 million bases long, encodes over 1,000 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.
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