About Site Map Contact Us
|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed December 2008
What is the official name of the PSEN1 gene?
The official name of this gene is “presenilin 1.”
PSEN1 is the gene's official symbol. The PSEN1 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 PSEN1 gene?
The PSEN1 gene provides instructions for making a protein called presenilin 1. This protein is involved in the development of the brain and spinal cord (central nervous system) and the survival of nerve cells (neurons). Presenilin 1 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 1 is best known for its role in processing amyloid precursor protein, which is made in the brain and other tissues. Research suggests that presenilin 1 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 PSEN1 gene related to health conditions?
Where is the PSEN1 gene located?
Cytogenetic Location: 14q24.3
Molecular Location on chromosome 14: base pairs 73,603,142 to 73,690,398
The PSEN1 gene is located on the long (q) arm of chromosome 14 at position 24.3.
More precisely, the PSEN1 gene is located from base pair 73,603,142 to base pair 73,690,398 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PSEN1?
You and your healthcare professional may find the following resources about PSEN1 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 PSEN1 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 PSEN1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.