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... > Amino Acids, Peptides, and Proteins > Peptides > Intracellular Signaling Peptides and Proteins > GTP-Binding Protein Regulators > Guanine Nucleotide Exchange Factors > C9orf72 Protein
... > Amino Acids, Peptides, and Proteins > Proteins > Intracellular Signaling Peptides and Proteins > GTP-Binding Protein Regulators > Guanine Nucleotide Exchange Factors > C9orf72 Protein

Preferred term

C9orf72 Protein  

Type

  • mesh:Descriptor

Definition

  • 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).

Broader concept

Entry terms

  • Chromosome 9 Open Reading Frame 72 Protein
  • Guanine Nucleotide Exchange Factor C9orf72

Allowable Qualifier(s)

In other languages

  • Protéine C9orf72

    French

  • Protéine du cadre de lecture ouvert 72 sur le chromosome 9
  • Protéine du cadre ouvert de lecture 72 sur le chromosome 9

URI

http://data.loterre.fr/ark:/67375/JVR-J6KX80WP-L

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RDF/XML TURTLE JSON-LD Created 7/11/17, last modified 6/28/21