C9orf72 Protein [protein C9orf72]
- Terms
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protein oblasti 72 otevřeného čtecího rámce na chromozomu 9
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Chromosome 9 Open Reading Frame 72 Protein
Guanine Nucleotide Exchange Factor C9orf72
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).
- DUI
- D000073885 MeSH Browser
- CUI
- M000624208
- Previous indexing
- Guanine Nucleotide Exchange Factors (2016-2017); Proteins (2011-2017)
- History note
- 2018
- Public note
- 2018
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- administration & dosage
- AE
- adverse effects
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- biosynthesis
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- chemistry
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- TU
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- TO
- toxicity
- UL
- ultrastructure
- UR
- urine
C9orf72 protein, human Chemical MeSH Browser
C9orf72 protein, mouse Chemical MeSH Browser