The human ataxin-7 gene, also known as spinocerebellar ataxia 7 or SCA7, maps to chromosome 3p13-p12, has a 2,727-bp open reading frame, and encodes a 892 amino acid protein containing a nuclear localization signal and a polyglutamine tract. 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 expressed within neurons both affected and unaffected in SCA7 pathology with subcellular localization being variable depending upon the neuronal subtype . Polyglutamine expanded in ataxin-7 may carry out its pathogenic effects in the nucleus by altering the matrix-associated nuclear structure and/or by disrupting nucleolar function.
应用类型
WB
免疫原
A synthetic peptide corresponding to residues in Human ATXN7.
