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 ?
In addition to the ApoE gene, identification of early onset AD can also be furthered by isolation of the three autosomal dominant genes--presenilin-1, presenilin-2, and amyloid precursor protein gene--which account for many of the early onset cases of the disease, defined as symptomatic before age 60.
For example, the known genes that trigger young onset Alzheimer's (amyloid precursor protein (APP), presenilin-1 (PS-1) and presenilin-2 (PS-2)) directly affect the processing of a protein called amyloid, virtually guaranteeing an important role for that protein in the sporadic version of the disease.
These included the presenilin-2 gene, which mediates the conversion of APP into beta-amyloid.
Potter's group studied two proteins called presenilin-1 and presenilin-2.