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psen1

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Official Full Name
presenilin 1
Background
Alzheimers 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]
Synonyms
PSEN1; presenilin 1; AD3; FAD; PS1; PS-1; S182; presenilin-1; AD3, Alzheimer disease 3; presenilin 1 (Alzheimer disease 3); pre1; psen; zfPS1; zf-PS1