title: PSEN2
text: # PSEN2
  
  Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene.
  
  ## Function
  
  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). 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 MITF.
  
  ## Interactions
  
  PSEN2 has been shown to interact with:
  
  * BCL2-like 1,
  * CAPN1,
  * CIB1,
  * Calsenilin,
  * FHL2,
  * FLNB,
  * KCNIP4,
  * Nicastrin, and
  * UBQLN1.
  