[5] Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP).

These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains).

Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes.

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

This article on a gene on human chromosome 1 is a stub.