PSEN1

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]

Description

presenilin 1

Protein family

Mapped to UniProt SWISS-PROT, Peptidases, Potential transmembrane proteins, Transporters

Chromosome

14:q24.2 (73603126 - 73690399)

Ensembl ID

ENSG00000080815  (ver. 71.37)

Orthologs

Mouse Psen1: ENSMUSG00000019969

Human splice variants
Mouse splice variants