Presenilin-2
Protein-coding gene in the species Homo sapiens
01Function
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.
02Interactions
PSEN2 has been shown to interact with:
- BCL2-like 1,
- CAPN1,
- CIB1,
- Calsenilin,
- FHL2,
- FLNB,
- KCNIP4,
- Nicastrin, and
- UBQLN1.
Sources and credits
This article is adapted from the Wikipedia article “Presenilin-2”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 1.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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