PSEN1

Also known as Ad3h, PS-1, PS1, S182, AD3, FAD, presenilin 1

Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.

Gene data

PSEN1

Name: presenilin 1
Type: protein-coding
Position: 73,136,418–73,223,691 (+)
Aliases: ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
Ensembl: ENSG00000080815
RefSeq RNA: NM_000021.4, NM_007318.3, NM_007319.1, XM_005267864.4, XM_005267866.3
RefSeq protein: NP_000012.1, NP_015557.2, XP_005267921.1, XP_005267923.1, XP_011535274.1

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in 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. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008].