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C9orf72 Protein MeSH Descriptor Data 2023


MeSH Heading
C9orf72 Protein
Tree Number(s)
D12.644.360.325.300.025
D12.776.476.325.300.025
Unique ID
D000073885
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000073885
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).
Entry Term(s)
Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72
Registry Number
0
Previous Indexing
Guanine Nucleotide Exchange Factors (2016-2017)
Proteins (2011-2017)
Public MeSH Note
2018
History Note
2018
Date Established
2018/01/01
Date of Entry
2017/07/11
Revision Date
2021/06/28
C9orf72 Protein Preferred
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