PSEN1 wt Allele

Preferred Label : PSEN1 wt Allele;

NCIt synonyms : Alzheimer Disease 3 Gene; AD3; S182; PS1; FAD; Presenilin 1 wt Allele;

NCIt definition : Human PSEN1 wild-type allele is located in the vicinity of 14q24.3 and is approximately 87 kb in length. This allele, which encodes presenilin-1 protein, is involved in the modulation of proteolytic processing. Mutation of the gene is associated with early-onset Alzheimer disease and frontotemporal dementia.;

GenBank Accession Number : AJ008005;

Details

Origin ID

C95116;

UMLS CUI

C2986918;

OMIM relation
- Presenilin 1 [OMIM gene]
See also inter- (CISMeF)
- Alzheimer disease 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Alzheimer's Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyloid Beta-Peptide Pathway [NCIt concept]
- Gamma-Secretase Mediated ErbB4 Signaling Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Notch Proteolysis and Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Notch and Wnt Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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