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Reviewed May 2008
What is the official name of the NOTCH3 gene?
The official name of this gene is “notch 3.”
NOTCH3 is the gene's official symbol. The NOTCH3 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 NOTCH3 gene?
The NOTCH3 gene provides instructions for producing the Notch3 receptor protein. This receptor protein is located on the surface of the muscle cells that surround blood vessels (vascular smooth muscle cells). The Notch3 receptor protein is specific to arteries, which are blood vessels that carry blood from the heart to the rest of the body. The protein is not present in veins, which return blood to the heart. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells. Notch3 receptors play a key role in the function and survival of vascular smooth muscle cells. These receptors are thought to be essential for the maintenance of healthy muscle cells in the brain's arteries.
Does the NOTCH3 gene share characteristics with other genes?
The NOTCH3 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the NOTCH3 gene related to health conditions?
Where is the NOTCH3 gene located?
Cytogenetic Location: 19p13.2-p13.1
Molecular Location on chromosome 19: base pairs 15,270,443 to 15,311,791
The NOTCH3 gene is located on the short (p) arm of chromosome 19 between positions 13.2 and 13.1.
More precisely, the NOTCH3 gene is located from base pair 15,270,443 to base pair 15,311,791 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NOTCH3?
You and your healthcare professional may find the following resources about NOTCH3 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 NOTCH3 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 NOTCH3?
amino acid ; apoptosis ; arteries ; arteriopathy ; autosomal ; autosomal dominant ; cell ; deletion ; domain ; gene ; leukoencephalopathy ; locus ; molecule ; nucleus ; protein ; receptor ; subcortical ; vascular ; veins
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.