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c9orf72 gene and its HRE associated pathophysiology in ALS
Creator
s
Description
Chromosome 9 open reading frame 72 (c9orf72) is a 41 kb gene that contains 2 non-coding and 10 coding exons those transcribe to 3 coding variants (V1, V2, and V3) for the production of 2 proteins. With uncertain knowledge regarding the cause, the hexanucleotide repeat expansion (HRE) i.e., (GGGGCC)n in the intronic region of c9orf72 leads to the production of highly toxic repeat associated dipeptide proteins in the pathophysiology of familial Amyotrophic lateral sclerosis (ALS).
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