PSEN2

Presenilin-2 is a is_associated_with::protein that in humans is encoded by the PSEN2 is_associated_with::gene.

Function
is_associated_with::Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the is_associated_with::presenilin proteins (is_associated_with::PSEN1; PSEN2) or the is_associated_with::amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of is_associated_with::amyloid-beta (main component of is_associated_with::amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on is_associated_with::gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the is_associated_with::Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are is_associated_with::protease enzymes. Two alternative transcripts of PSEN2 have been identified.

In melanocytic cells PSEN2 gene expression may be regulated by MITF.

Interactions
PSEN2 has been shown to interact with:


 * BCL2-like 1,
 * is_associated_with::CAPN1,
 * is_associated_with::CIB1,
 * is_associated_with::Calsenilin,
 * is_associated_with::FHL2,
 * is_associated_with::FLNB,
 * is_associated_with::KCNIP4,
 * is_associated_with::Nicastrin,  and
 * is_associated_with::UBQLN1.