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C9orf72 may play a role in endosomal trafficking and autophagy. It is known to interact with HNRNPA1, HNRNPA2B1, UBQLN2, and small Rab GTPSases. C9orf72 localizes in the nucleus, cytoplasm, endosome, lysosome, and autophagosome. Mutations in this gene can result in frontotemporal dementia and/or amyotrophic lateral sclerosis.
3110043O21Rik; AI840585; ALSFTD; C9orf72; chromosome 9 open reading frame 72; FTDALS; FTDALS1; Guanine nucleotide exchange C9orf72; Guanine nucleotide exchange C9orf72 homolog; protein C9orf72; protein C9orf72 homolog; RGD1359108; RIKEN cDNA 3110043O21 gene; similar to RIKEN cDNA 3110043O21
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