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Reviewed December 2013
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 one part (subunit) of a complex called gamma- (γ-) secretase. Presenilin 1 carries out the major function of the complex, which is to cut apart (cleave) other proteins into smaller pieces called peptides. This process is called proteolysis, and presenilin 1 is described as the proteolytic subunit of γ-secretase.
The γ-secretase complex is located in the membrane that surrounds cells, where it cleaves many different proteins that span the cell membrane (transmembrane proteins). This cleavage is an important step in several chemical signaling pathways that transmit signals from outside the cell into the nucleus. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function.
The γ-secretase complex may be best known for its role in processing amyloid precursor protein (APP), which is made in the brain and other tissues. γ-secretase cuts APP into smaller peptides, including soluble amyloid precursor protein (sAPP) and several versions of amyloid-beta (β) peptide. Evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of nerve cells (neurons) in the brain both before and after birth. Other functions of sAPP and amyloid-β peptide are under investigation.
How are changes in the PSEN1 gene related to health conditions?
Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the PSEN1 gene.
Where is the PSEN1 gene located?
Cytogenetic Location: 14q24.3
Molecular Location on chromosome 14: base pairs 73,136,435 to 73,223,691
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 73,136,435 to base pair 73,223,691 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?
amyloid ; cardiomyopathy ; cell ; cell membrane ; chronic ; degenerative ; dilated ; DNA ; familial ; gene ; gene product ; hair follicle ; immune system ; inflammation ; mutation ; nucleotide ; nucleus ; peptide ; precursor ; protein ; soluble ; subunit ; toxic ; transmembrane
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.