C9orf72 wt Allele

Preferred Label : C9orf72 wt Allele;

NCIt synonyms : RP11-27J8.2; Guanine Nucleotide Exchange C9orf72 Gene; FTDALS; MGC23980; ALSFTD; C9orf72-SMCR8 Complex Subunit wt Allele; DENNL72; DENND9; Chromosome 9 Open Reading Frame 72 Gene;

NCIt definition : Human C9orf72 wild-type allele is located in the vicinity of 9p21.2 and is approximately 27 kb in length. This allele, which encodes guanine nucleotide exchange factor C9orf72 protein, is involved in guanyl-nucleotide exchange activity that mediates cellular stress responses and regulates autophagy. An expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72 gene is associated with amyotrophic lateral sclerosis and frontotemporal dementia.;

GenBank Accession Number : AL832467;

Details

Origin ID

C101399;

UMLS CUI

C3538797;

Automatic exact mappings (from CISMeF team)
- C9orf72-SMCR8 complex subunit [ORDO Gene]
- Frontotemporal dementia [OMIM Phenotype]
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- frontotemporal dementia and/or amyotrophic lateral sclerosis-1 [DO Concept]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
OMIM relation
- Chromosome 9 open reading frame 72 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p21.2 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Autophagy Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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