PSEN2


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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 ?
Preliminary findings from our laboratory indicate that the complexes containing PSEN1 and PSEN2 are differently distributed along the secretory and endocytic pathways.
Ringman presented findings from the first 212 men and women enrolled in the Dominantly Inherited Alzheimer Network (DIAN), an international multicenter study intended to characterize early clinical and biomarker changes occurring in people who inherit known FAD mutations in the PSEN1, APP, or PSEN2 genes.
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.