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Reviewed December 2008
What is the official name of the PSEN2 gene?
The official name of this gene is “presenilin 2.”
PSEN2 is the gene's official symbol. The PSEN2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PSEN2 gene?
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.
How are changes in the PSEN2 gene related to health conditions?
Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the PSEN2 gene.
Where is the PSEN2 gene located?
Cytogenetic Location: 1q42.13
Molecular Location on chromosome 1: base pairs 226,870,572 to 226,896,103
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The PSEN2 gene is located on the long (q) arm of chromosome 1 at position 42.13.
More precisely, the PSEN2 gene is located from base pair 226,870,572 to base pair 226,896,103 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PSEN2?
You and your healthcare professional may find the following resources about PSEN2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PSEN2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PSEN2?
acids ; amino acid ; amyloid ; asparagine ; cardiomyopathy ; cell ; cell membrane ; dilated ; familial ; gene ; isoleucine ; methionine ; mutation ; nucleus ; peptide ; precursor ; protein ; soluble ; toxic ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.