Are ATXN2 variants modifying our understanding about neural pathogenesis,phenotypes,and diagnostic?  

作　　者：Jose Miguel Laffita-Mesa Martin Paucar Per Svenningsson 

机构地区：[1]Department of Clinical Neuroscience(CNS),Karolinska Universitetssjukhuset

出　　处：《Neural Regeneration Research》2022年第11期2445-2447,共3页中国神经再生研究（英文版）

摘　　要：ATXN2 one gene with multiple phenotype effects:ATXN2 gene encodes a cytosolic protein(ataxin-2)with pleiotropic functions(see below).This gene contains a number of exonic Cytosine-Adenine-Guanine(CAG)-repeats which encodes a polyglutamine tract(polyQ)in the N-terminal intrinsically disordered region(IDR)of the protein.ATXN2CAG repeats are interrupted by CAA codons which is relevant only for DNA and RNA but not for protein since CAA also encodes glutamine(Q).

关 键 词：PATHOGENESIS NEURAL interrupted 

分 类 号：R741[医药卫生—神经病学与精神病学]