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protein C9orf72

  1. Topical termprotein C9orf72
    See linkChromosome 9 Open Reading Frame 72 Protein (UF)
    Guanine Nucleotide Exchange Factor C9orf72 (UF)
    protein oblasti 72 otevřeného čtecího rámce na chromozomu 9 (UF)
    See alsovýměnné faktory guaninnukleotidů
    Linking entryC9orf72 Protein
    ConspectD12. - 644. - 360. - 325. - 300. - 025
    D12. - 776. - 476. - 325. - 300. - 025
    NoteA 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).
    DatabaseMESH
    References (1) - MESH
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Number of the records: 1  

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