PSEN2

Presenilin 2 (Alzheimer disease 4), also known as PSEN2, is a human gene.

PBB_Summary
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summary_text = Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; 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 that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Two alternative transcripts of PSEN2 have been identified. [cite web | title = Entrez Gene: PSEN2 presenilin 2 (Alzheimer disease 4)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5664| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Cruts M, Van Broeckhoven C |title=Presenilin mutations in Alzheimer's disease. |journal=Hum. Mutat. |volume=11 |issue= 3 |pages= 183–90 |year= 1998 |pmid= 9521418 |doi= 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J |doilabel=10.1002/(SICI)1098-1004(1998)11:3183::AID-HUMU13.0.CO;2-J
*cite journal | author=McGeer PL, Kawamata T, McGeer EG |title=Localization and possible functions of presenilins in brain. |journal=Reviews in the neurosciences |volume=9 |issue= 1 |pages= 1–15 |year= 1998 |pmid= 9683324 |doi=
*cite journal | author=Nishimura M, Yu G, St George-Hyslop PH |title=Biology of presenilins as causative molecules for Alzheimer disease. |journal=Clin. Genet. |volume=55 |issue= 4 |pages= 219–25 |year= 1999 |pmid= 10361981 |doi=
*cite journal | author=da Costa CA |title=Recent insights on the pro-apoptotic phenotype elicited by presenilin 2 and its caspase and presenilinase-derived fragments. |journal=Current Alzheimer research |volume=2 |issue= 5 |pages= 507–14 |year= 2006 |pmid= 16375654 |doi=
*cite journal | author=Wolfe MS |title=When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease. |journal=EMBO Rep. |volume=8 |issue= 2 |pages= 136–40 |year= 2007 |pmid= 17268504 |doi= 10.1038/sj.embor.7400896
*cite journal | author=De Strooper B |title=Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. |journal=EMBO Rep. |volume=8 |issue= 2 |pages= 141–6 |year= 2007 |pmid= 17268505 |doi= 10.1038/sj.embor.7400897

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