Guanine Nucleotide Exchange Factor C9orf72

Preferred Label : Guanine Nucleotide Exchange Factor C9orf72;

NCIt synonyms : Hypothetical Protein LOC203228; Uncharacterized Protein C9orf72; C9orf72; Protein C9orf72;

NCIt definition : Guanine nucleotide exchange factor C9orf72 (481 aa, 54 kDa) is encoded by the human C9orf72 gene. This protein plays a role in cellular stress responses, autophagy and guanyl-nucleotide exchange activity.;

Details

Origin ID

C101400;

UMLS CUI

C3252868;

OMIM relation
- Chromosome 9 open reading frame 72 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- C9orf72 protein, human [MeSH Supplementary Concept]
- C9orf72 protein, human [MeSH concept]
gene_encodes_gene_product
- C9orf72 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Signaling Pathway Gene [NCIt concept]
gene_product_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Autophagy Regulation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Autophagy [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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