PSEN2

Also known as AD3L, AD4, CMD1V, PS2, STM2, presenilin 2

Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene.

Gene data

PSEN2

Name: presenilin 2
Type: protein-coding
Position: 226,870,184–226,927,726 (+)
Aliases: AD3L, AD4, CMD1V, PS2, STM2
Ensembl: ENSG00000143801
RefSeq RNA: NM_000447.3, NM_001437537.1, NM_012486.3, XM_017001835.2, XM_017001836.2
RefSeq protein: NP_000438.2, NP_001424466.1, NP_036618.2, XP_016857324.1, XP_016857325.1

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008].