Gene: PSEN2

Alternate names for this Gene: AD3L|AD4|CMD1V|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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: presenilin 2

Type of Gene: protein-coding

Gene: LOC105373119

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