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C9orf72 proteín

  1. Subject h.C9orf72 proteín
    Subject h.C9orf72 Protein
    Entry termsproteín oblasti 72 otvoreného čítacieho rámca na chromozóme 9
    guanin nukleotid výměnný faktor C9orf72
    English X referencesGuanine Nucleotide Exchange Factor C9orf72
    Scope note in EnglishA 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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Number of the records: 1  

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