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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.
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Protein Aliases: Guanine nucleotide exchange factor C9orf72; Guanine nucleotide exchange factor C9orf72 homolog; protein C9orf72 homolog
Gene Aliases: AI840585; ALSFTD; C9orf72; DENND9; DENNL72; FTDALS; FTDALS1
UniProt ID: (Mouse) Q6DFW0, (Human) Q96LT7, (Rat) Q66HC3
Entrez Gene ID: (Mouse) 73205, (Human) 203228, (Rat) 313155
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