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C9orf72 proteín
Subject h. C9orf72 proteín Subject h. C9orf72 Protein Entry terms proteín oblasti 72 otvoreného čítacieho rámca na chromozóme 9
guanin nukleotid výměnný faktor C9orf72English X references Guanine Nucleotide Exchange Factor C9orf72 Scope note in English A widely-expressed guanine nucleotide exchange factor protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1). 
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