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

Preferred term

C9orf72 Protein  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Scope note

  • 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).

History note

  • 2018

In other languages

URI

http://www.yso.fi/onto/mesh/D000073885

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