rs200636353
This variant is located in the PSEN2 gene.
▶ClinVar annotation
Alzheimer disease 4; Dilated cardiomyopathy 1V
View on ClinVar →▶Research that mentions this SNP (1)
▶ReviewUnknown
This is a comprehensive review article examining the role of PSEN1 and PSEN2 mutations in early-onset Alzheimer's disease (FAD). The paper discusses how PSEN mutations are causal factors for FAD, accounting for 70-80% of autosomal dominant early-onset AD cases, and describes the molecular mechanisms through which presenilin proteins regulate γ-secretase activity and amyloid-beta generation. Recent findings indicate that most FAD-associated PSEN mutations reduce rather than increase γ-secretase activity and Aβ production.
About PSEN2
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
View all PSEN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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