The Disease Protein Huntingtin and Neuronal Protein Aggregations in Huntington's Disease (HD).

Identified in 1993 and located on chromosome 4p16.3, the human HD gene (also called IT15) contains 67 exons and spans more than 200 kb. It harbors meiotically unstable CAG trinucleotide or polyglutamine repeats (cytosine, adenine, guanine) in its exon 1, which encode the very large 350 kDa huntingtin protein (Htt). Htt consists of about 3100 amino acids and… CONTINUE READING