PSEN1 Back

presenilin 1 (Alzheimer disease 3)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PSEN1
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined.

Community Annotation of PSEN1 Add / Edit PSEN1: Annotations

No community annotations yet for PSEN1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PSEN1 is highly significantly mutated in
(none)
PSEN1 is significantly mutated in
(none)
PSEN1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PSEN1