Entrez gene ID | | 5664 |
Official gene symbol | | PSEN2 |
Full name | | presenilin 2 (Alzheimer disease 4) |
Aliases | | ,AD3L,AD4,PS2,STM2, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1q31-q42 |
Gene position | | 227058273 - 227083804 Map Viewer |
Gene orientation | | plus |
Gene size | | 25532 bp |
Gene sequence |
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OMIM ID | | 600759 |
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