Structured Summary
Abstract
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).
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Classification
Broader headings
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Synonyms
2 entry terms
- Chromosome 9 Open Reading Frame 72 Protein
- Guanine Nucleotide Exchange Factor C9orf72
MeSH Record
Aspects Covered
30 allowable subheadings
Indexed with the subheadings administration & dosage, adverse effects, agonists, analysis, antagonists & inhibitors, biosynthesis, blood, cerebrospinal fluid, chemical synthesis, chemistry, classification, deficiency, drug effects, economics, genetics, history, immunology, isolation & purification, metabolism, pharmacokinetics, pharmacology, physiology, poisoning, radiation effects, standards, supply & distribution, therapeutic use, toxicity, ultrastructure, urine.
MeSH Record
History Note
2018
MeSH Record
Previous Indexing
- Guanine Nucleotide Exchange Factors (2016-2017)
- Proteins (2011-2017)
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AMA Style
References
- National Library of Medicine. C9orf72 Protein. Medical Subject Headings (MeSH). 2026. Unique ID D000073885. http://id.nlm.nih.gov/mesh/2026/D000073885
- C9orf72 Protein. In: Wikidata. https://www.wikidata.org/wiki/Q24779963