presenilin 2
Last updated 19 Nov 2025
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The PSEN2 gene provides instructions for making a protein called presenilin 2. Presenilin 2 helps process proteins that transmit chemical signals from the cell membrane into the nucleus. Once in the nucleus, these signals turn on (activate) genes that are important for cell growth and maturation.
Normal function
The PSEN2 gene provides instructions for making a protein called presenilin 2. Presenilin 2 helps process proteins that transmit chemical signals from the cell membrane into the nucleus. Once in the nucleus, these signals turn on (activate) genes that are important for cell growth and maturation.
Presenilin 2 is best known for its role in processing amyloid precursor protein, which is found in the brain and other tissues. Research suggests that presenilin 2 works together with other enzymes to cut amyloid precursor protein into smaller segments (peptides). One of these peptides is called soluble amyloid precursor protein (sAPP), and another is called amyloid beta peptide. Recent evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of neurons in the brain both before and after birth. Other functions of sAPP and amyloid beta peptide are under investigation.
Conditions referring to this gene or chromosome
Other names
AD3-like protein
AD3L
AD3LP
AD4
AD5
Alzheimer's disease 3-like
E5-1
presenilin 2 (Alzheimer disease 4)
PS2 protein (alzheimer-associated)
PSN2_HUMAN
PSNL2
STM2
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Further reading and references
- presenilin 2; MedlinePlus, National Library of Medicine.
- Bertram L, Tanzi RE. The current status of Alzheimer's disease genetics: what do we tell the patients? Pharmacol Res. 2004 Oct;50(4):385-96. doi: 10.1016/j.phrs.2003.11.018.
- Cordy JM, Hooper NM, Turner AJ. The involvement of lipid rafts in Alzheimer's disease. Mol Membr Biol. 2006 Jan-Feb;23(1):111-22. doi: 10.1080/09687860500496417.
- George-Hyslop PS, Rossor M. Alzheimer's disease. Unravelling the disease process. Lancet. 2001 Dec;358 Suppl:S1. doi: 10.1016/s0140-6736(01)07014-3. No abstract available.
- Harman D. Alzheimer's disease pathogenesis: role of aging. Ann N Y Acad Sci. 2006 May;1067:454-60. doi: 10.1196/annals.1354.065.
- Papassotiropoulos A, Fountoulakis M, Dunckley T, Stephan DA, Reiman EM. Genetics, transcriptomics, and proteomics of Alzheimer's disease. J Clin Psychiatry. 2006 Apr;67(4):652-70. doi: 10.4088/jcp.v67n0418.
- Rocchi A, Pellegrini S, Siciliano G, Murri L. Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull. 2003 Jun 30;61(1):1-24. doi: 10.1016/s0361-9230(03)00067-4.
- Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. doi: 10.1152/physrev.2001.81.2.741.
- St George-Hyslop PH. Genetic factors in the genesis of Alzheimer's disease. Ann N Y Acad Sci. 2000;924:1-7. doi: 10.1111/j.1749-6632.2000.tb05552.x.
- Thinakaran G, Parent AT. Identification of the role of presenilins beyond Alzheimer's disease. Pharmacol Res. 2004 Oct;50(4):411-8. doi: 10.1016/j.phrs.2003.12.026.
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