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 ?
EOAD: Mutaciones en Biomarcadores en la los genes APP, PSEN1 enfermedad de y PSEN2. Alzheimer.
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.
Preliminary findings from our laboratory indicate that the complexes containing PSEN1 and PSEN2 are differently distributed along the secretory and endocytic pathways.