"C9orf72 Protein" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A widely-expressed 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).
| Descriptor ID |
D000073885
|
| MeSH Number(s) |
D12.776.141
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "C9orf72 Protein".
Below are MeSH descriptors whose meaning is more specific than "C9orf72 Protein".
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Below are the most recent publications written about "C9orf72 Protein" by people in Profiles.
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The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology. Alzheimers Dement. 2020 01; 16(1):22-36.