PSEN2

From Wikipedia, the free encyclopedia

Presenilin 2 (Alzheimer disease 4)

Identifiers

PSEN2; AD3L; AD4; PS2; STM2

External IDs

OMIM: 600759 MGI: 109284 HomoloGene: 386

Gene ontology
Molecular Function:	• protein binding • peptidase activity
Cellular Component:	• kinetochore • integral to nuclear inner membrane • endoplasmic reticulum • Golgi apparatus • integral to plasma membrane • membrane • integral to membrane
Biological Process:	• cell fate specification • membrane protein ectodomain proteolysis • chromosome organization and biogenesis (sensu Eukaryota) • chromosome segregation • Notch receptor processing • intracellular signaling cascade • apoptotic program • protein processing • embryonic limb morphogenesis • anagen • amyloid precursor protein catabolic process • positive regulation of apoptosis • positive regulation of enzyme activity

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000447 (mRNA)
NP_000438 (protein)

NM_011183 (mRNA)
NP_035313 (protein)

Location

Chr 1: 225.12 - 225.15 Mb

Chr 1: 182.06 - 182.08 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ Entrez Gene: PSEN2 presenilin 2 (Alzheimer disease 4).

[edit] Further reading

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