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 FAD the cause of the disease is a genetic mutation in the genes coding for the amyloid precursor protein (APP), presenilin-1 (PS1) or presenilin-2 (PS2) (47).
Until now, three genes have been related to familial Alzheimer's disease: the Presenilin-1 (PS-1) gene, the amyloid precursor protein (APP), and the Presenilin-2 (PS-2) (3,4)
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.
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.
Probable AD: Clinical and cognitive criteria for AD are met and there is documented progressive cognitive decline or abnormal biomarker(s) suggestive of AD or evidence of proven AD autosomal dominant genetic mutation (presenilin-1, presenilin-2, amyloid-[beta] precursor protein)