C9orf72 Protein

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).

Year introduced: 2018

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Tree Number(s): D12.644.360.325.300.025, D12.776.476.325.300.025

MeSH Unique ID: D000073885

Entry Terms:

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

Previous Indexing:

• Guanine Nucleotide Exchange Factors (2016-2017)
• Proteins (2011-2017)

All MeSH Categories
Chemicals and Drugs Category
Amino Acids, Peptides, and Proteins
Peptides
Intracellular Signaling Peptides and Proteins
GTP-Binding Protein Regulators
Guanine Nucleotide Exchange Factors
C9orf72 Protein

All MeSH Categories
Chemicals and Drugs Category
Amino Acids, Peptides, and Proteins
Proteins
Intracellular Signaling Peptides and Proteins
GTP-Binding Protein Regulators
Guanine Nucleotide Exchange Factors
C9orf72 Protein