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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PSEN2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5664
Official gene symbolPSEN2
Full namepresenilin 2 (Alzheimer disease 4)
Aliases,AD3L,AD4,PS2,STM2,
Gene summaryAlzheimer'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]
LocationChromosome: 1   Locus: 1q31-q42
Gene position227058273 - 227083804  Map Viewer
Gene orientationplus
Gene size25532 bp
Gene sequence
OMIM ID600759