Presenilin-2 is a
protein that (in humans) is encoded by the PSEN2gene.[5]
Function
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 they either directly regulate gamma-secretase activity or themselves are
protease enzymes. Two alternative transcripts of PSEN2 have been identified.[6]
In melanocytic cells PSEN2 gene expression may be regulated by
MITF.[7]
^Buxbaum JD, Choi EK, Luo Y, Lilliehook C, Crowley AC, Merriam DE, Wasco W (October 1998). "Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment". Nat. Med. 4 (10): 1177–81.
doi:
10.1038/2673.
PMID9771752.
S2CID10799492.
^Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LS, Sorbi S, Bruni A, Fraser P, St George-Hyslop P (September 2000). "Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing". Nature. 407 (6800): 48–54.
Bibcode:
2000Natur.407...48Y.
doi:
10.1038/35024009.
PMID10993067.
S2CID4339220.
Presenilin-2 is a
protein that (in humans) is encoded by the PSEN2gene.[5]
Function
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 they either directly regulate gamma-secretase activity or themselves are
protease enzymes. Two alternative transcripts of PSEN2 have been identified.[6]
In melanocytic cells PSEN2 gene expression may be regulated by
MITF.[7]
^Buxbaum JD, Choi EK, Luo Y, Lilliehook C, Crowley AC, Merriam DE, Wasco W (October 1998). "Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment". Nat. Med. 4 (10): 1177–81.
doi:
10.1038/2673.
PMID9771752.
S2CID10799492.
^Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LS, Sorbi S, Bruni A, Fraser P, St George-Hyslop P (September 2000). "Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing". Nature. 407 (6800): 48–54.
Bibcode:
2000Natur.407...48Y.
doi:
10.1038/35024009.
PMID10993067.
S2CID4339220.