Presenilin-2
Presenilin-2 is a protein that is encoded by the PSEN2 gene.
Function
patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid [precursor protein]. These disease-linked mutations result in increased production of the longer form of amyloid-beta. Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. 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. Two alternative transcripts of PSEN2 have been identified.In melanocytic cells PSEN2 gene expression may be regulated by Microphthalmia-associated [transcription factor|MITF].
Interactions
PSEN2 has been shown to interact with:- BCL2-like 1,
- CAPN1,
- CIB1,
- Calsenilin,
- FHL2,
- FLNB,
- KCNIP4,
- Nicastrin, and
- UBQLN1.