PSEN2 wt Allele

Preferred Label : PSEN2 wt Allele;

NCIt synonyms : PS2; STM2; Alzheimer's Disease 3-Like Gene; AD4; AD3L; Presenilin 2 (Alzheimer Disease 4) wt Allele;

NCIt definition : Human PSEN2 wild-type allele is located within 1q31-q42 and is approximately 26 kb in length. This allele, which encodes presenilin-2 protein, plays a role in the modulation of proteolysis. Mutation of the gene is associated with Alzheimer disease.;

GenBank Accession Number : BC006365;

Details

Origin ID

C95119;

UMLS CUI

C2986919;

OMIM relation
- Presenilin 2 [OMIM gene]
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_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- HIV-1 Nef: Negative Effector Pathway for Fas and TNF-Alpha [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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