Ataxin 7 Like Protein 2 (ATXN7L2)

SCA7 is an autosomal dominant neurodegenerative disorder characterized by ataxia and selective neuronal cell loss caused by the expansion of a translated CAG repeat encoding a polyglutamine tract in Ataxin-7, which is the SCA7 gene product. Ataxin-7 is a nuclear protein that is expressed within neurons both affected and unaffected in SCA7 pathology with subcellular localization being variable depending upon the neuronal subtype. ATXN7L2 is a 722 amino acid protein that contains a SCA7 domain, which is highly conserved through all members of the ATXN7 gene family. The gene encoding ATXN7L2 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.