PSEN2

(redirected from presenilin 2)

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 ?
This proposal aims to examine presenilin 2 (PS2) protein-mediated molecular and cellular events that are protective against Ab accumulation and AD and, as such, is aligned with the objective of the FP7 s Health Research Programme that focuses on Research on the brain and related diseases .
In particular, dominant disease is exemplified in the case of Alzheimer's disease by presenilin 2 mutations that arose in German immigrants from the Volga river region in the 17th century, [1] and in PD by mutations in the LRRK2 protein that are linked to a founder effect dating back to the 2nd century, probably in Ashkenazi Jews.
DIAN researchers are studying members of families who have mutations in one of three genes: amyloid precursor protein, presenilin 1, or presenilin 2.
Three genes are currently known to cause this EOAD--amyloid-beta precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
Researchers of Dominantly Inherited Alzheimer's Network (DIAN), an international study of inherited forms of Alzheimer's, are studying members of families who have mutations in one of three genes: amyloid precursor protein, presenilin 1 or presenilin 2.
While mutations in presenilin 1, presenilin 2 and [beta]-amyloid precursor protein gene are highly penetrant causes of early-onset Alzheimer's disease, these together account for less than 1 per cent of cases of Alzheimer's disease in the general population.
Four causative genes (amyloid precursor protein gene, presenilin 1, presenilin 2, and apolipoprotein E) have been associated with AD (Morishima-Kawashima & Ihara, 2002).
These genes are those encoding amyloid precursor protein (APP), presenilin 1, and presenilin 2.
This protein, called presenilin 2, is very similar to presenilin 1.
Ubiquilin 1 encodes the protein ubiquilin 1, regulates protein degradation, interacts with presenilin 1 and presenilin 2, and promotes the accumulation of presenilin in vitro, they said.
Three of these -- involving the amyloid precursor, presenilin 1 and presenilin 2 proteins -- cause rare, inherited, early-onset forms of the devastating disorder.
A: It is called the presenilin 2 (PS2) gene on chromosome 1.