PSEN2


Also found in: Encyclopedia.

PSEN2

A gene on chromosome 1q31-q42 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, or in linking chromatin to the nuclear membrane; it may also play a role in sorting proteins in the cytoplasm.

Molecular pathology
Defects in PSEN2 are a cause of Alzheimer disease type 4 and cardiomyopathy dilated type 1V.
References in periodicals archive ?
The microdomain association of PSEN1 and PSEN2 complexes will be achieved by analysis of colocalization with microdomain-specific proteins and lipid probes.
Ringman reported that 159 were at risk for PSEN1 mutations, 19 for PSEN2 mutations, and 34 for APP mutations.
Mutations in three dominant genes (PSEN1, PSEN2 and APP) were shown to account for increased risk in early-onset AD (Levy-Lahad, Lahad, Wijsman, Bird, & Schellenberg, 1995; Sherrington et al.
Probable AD with an increased level of certainty is indicated by the core criteria of probable AD plus either evidence of cognitive decline on repeated evaluation or evidence of a genetic mutation in APE PSEN1, or PSEN2 genes.
A team of scientists from Cardiff University have been examining three genes - APP, PSEN1 and PSEN2 - which are known to cause rare early onset forms of Alzheimer's.
The genetic component is most conspicuous in a relatively small percentage (< 1%) of families that carry disease-causing germline mutations in 1 of 3 genes--APP [amyloid beta (A4) precursor protein], PSEN1 (presenilin 1), or PSEN2 (presenilin 2)--that will invariably lead to AD, often at a relatively young age.
Predictive genetic testing for mutations in the APP, PSEN1, or PSEN2 genes may be an option for at-risk individuals with a family history of early onset AD who exhibit autosomal dominant patterns of inheritance.