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 ?
Mutations in genes encoding amyloid precursor protein (APP), Presenilin1, or Presenilin 2 can cause familial early-onset AD; however, the etiology of the more common sporadic AD remains unclear.
A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein.
3) While mutations in chromosomes 1 and 14 result in the formation of abnormal presenilin 1 and presenilin 2, respectively.
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Reduced anxiety in the mice expressing mutant (N141I) presenilin 2," Journal of Neuroscience Research, vol.
These mutations involve the gene for the amyloid precursor protein (APP) and the genes for the presenilin 1 and presenilin 2 proteins.
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 .
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).
Mutations in amyloid precursor protein, presenilin 1, and presenilin 2 have been shown to cause a change in the processing of A1342 and thus lead to AD.
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.
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.
More than 200 mutations that cause familial AD have been identified (14) in the three genes encoding the amyloid precursor protein (APP), presenilin 1 and presenilin 2 proteins, all of which are involved in A[beta] generation as indicated by red arrows in Fig.