presenilin-2; PS-2; STM-2; E5-1; AD3LP; AD5; contains: presenilin-2 NTF subunit; contains: presenilin-2 CTF subunit (PSEN2, AD4, PS2, PSNL2, STM2)

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Function

Structure

Compartment

Alternative splicing

named isoforms=2 Alternate cleavage forms of PS-1 & 2 by a caspase-3 family protease occurs during apoptosis[4]

Expression

Pathology

More general terms

Additional terms

Component of

References

  1. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995 Aug 18;269(5226):973-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7638622
  2. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995 Aug 31;376(6543):775-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7651536
  3. Alzheimer's Disase Collaborative Group Nature Genetics 11:219-222 1995
  4. 4.0 4.1 Kim TW, Pettingell WH, Jung YK, Kovacs DM, Tanzi RE. Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease. Science. 1997 Jul 18;277(5324):373-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9219695
  5. 5.0 5.1 Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11274343
  6. Harman. J Am Aging Assoc (AGE) 23:147, 2000
  7. Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, Rogaeva E, Xu D, Liang Y, Duthie M, St George-Hyslop PH, Fraser PE. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J Biol Chem. 1998 Jun 26;273(26):16470-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9632714
  8. Jacobsen H, Reinhardt D, Brockhaus M, Bur D, Kocyba C, Kurt H, Grim MG, Baumeister R, Loetscher H. The influence of endoproteolytic processing of familial Alzheimer's disease presenilin 2 on abeta42 amyloid peptide formation. J Biol Chem. 1999 Dec 3;274(49):35233-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/10575009
  9. Capell A, Grunberg J, Pesold B, Diehlmann A, Citron M, Nixon R, Beyreuther K, Selkoe DJ, Haass C. The proteolytic fragments of the Alzheimer's disease- associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex. J Biol Chem. 1998 Feb 6;273(6):3205-11. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9452432
  10. UniProt http://www.uniprot.org/uniprot/P49810.html
  11. Alzheimer research forum; Note: presenilins mutations http://www.alzforum.org/res/com/mut/pre/default.asp
  12. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PSEN2

Database