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 ?
Wallon et al., "APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer's disease: a genetic screening study of familial and sporadic cases," PLoS Medicine, vol.
PSEN1 and PSEN2 are part of the [gamma]-secretase complex, which also includes nicastrin, anterior pharynx-defective 1, and presenilin enhancer 2 [29].
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset alzheimer's disease families.
The discovery of early-onset mutations in the PSEN genes aids in development of PSEN1 and PSEN2 transgenic mouse models.
Mendelian inheritance of 3 genes, PSEN1, PSEN2, and APP, is associated with an early-onset Alzheimer's disease (EOAD).
Also, enrichment analysis of KEGG pathways showed only a significant (p = 0.038 after FDR correction) group of AD associated genes (PSEN1, PSEN2, APP and APOE).
There are three main gene mutations that have been implicated in familial Alzheimer's disease--Amyloid beta (A4) precursor protein (APP), (19) Presenilin 1 (PSEN1) (20) and Presenilin 2 (PSEN2).
[1.] Yu C, Marchani E, Nikisch G, et al The N141I mutation in PSEN2: Implications for the quintessential case of Alzheimer disease.
Researchers in other countries report that [beta]-amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) are related to early-onset AD, [37] but there have been few studies on these genes in China.