miércoles, 21 de enero de 2015

NOTCH1 - notch 1 - Genetics Home Reference

NOTCH1 - notch 1 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the NOTCH1 gene?

The official name of this gene is “notch 1.”
NOTCH1 is the gene's official symbol. The NOTCH1 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 NOTCH1 gene?

The NOTCH1 gene provides instructions for making a protein called Notch1, a member of the Notch family of receptors. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Attachment of a ligand to the Notch1 receptor sends signals that are important for normal development of many tissues throughout the body, both before birth and after. Notch1 signaling helps determine the specialization of cells into certain cell types that perform particular functions in the body (cell fate determination). It also plays a role in cell growth and division (proliferation), maturation (differentiation), and self-destruction (apoptosis).
The protein produced from the NOTCH1 gene has such diverse functions that the gene is considered both an oncogene and a tumor suppressor. Oncogenes typically promote cell proliferation or survival, and when mutated, they have the potential to cause normal cells to become cancerous. In contrast, tumor suppressors keep cells from growing and dividing too fast or in an uncontrolled way, preventing the development of cancer; mutations that impair tumor suppressors can lead to cancer development.

Does the NOTCH1 gene share characteristics with other genes?

The NOTCH1 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 NOTCH1 gene related to health conditions?

head and neck squamous cell carcinoma - associated with the NOTCH1 gene
Mutations in the NOTCH1 gene have been found in about 15 percent of head and neck squamous cell carcinomas (HNSCC). This type of cancerous tumor occurs in the moist lining of the mouth, nose, and throat. NOTCH1 gene mutations associated with this condition are acquired during a person's lifetime and are found only in tumor cells; these changes are known as somatic mutations. Mutations in the NOTCH1 gene may reduce or eliminate production of functional Notch1 protein or lead to production of a protein that is unable to participate in cell signaling. Without the tumor suppressor function of the Notch1 protein, cells can grow and divide without control, leading to tumor formation.
other disorders - caused by mutations in the NOTCH1 gene
Mutations in the NOTCH1 gene can impair normal heart development before birth, causing abnormalities of the heart and related structures. One such abnormality occurs in the valve that connects the aorta to the heart (the aortic valve). The aorta is the large blood vessel that distributes blood from the heart to the rest of the body. The aortic valve normally has three flaps, or cusps, that open to let blood leave the heart and come together to prevent blood from reentering the heart. However, in about 1 to 2 percent of people, the aortic valve has only two flaps, which is known as bicuspid aortic valve. NOTCH1 gene mutations appear to be involved in 4 to 10 percent of bicuspid aortic valve cases.
Individuals with a bicuspid aortic valve are at a higher than normal risk of developing other aortic abnormalities, such as a bulge in the wall of the aorta (thoracic aortic aneurysm) or a sudden tearing of the layers in the aorta wall (aortic dissection). In addition, accumulation of calcium on the aortic valve can occur in people with a bicuspid aortic valve. Researchers suspect that NOTCH1 gene mutations also play a role in the development of thoracic aortic aneurysms and in calcification of the valve.
NOTCH1 gene mutations are also involved in critical congenital heart disease. Individuals with this condition have one or more specific heart abnormalities that affect the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.
other cancers - associated with the NOTCH1 gene
NOTCH1 gene mutations have been found in other types of cancer, particularly blood cell cancers called T-cell acute lymphoblastic leukemia and chronic lymphocytic leukemia, and a type of lung cancer called non-small cell lung cancer. Unlike in HNSCC (described above), theNOTCH1 gene mutations found in these cancers abnormally turn on (activate) Notch1 signaling. The increased activity can lead to uncontrolled cell growth and division, which can result in the development of cancer. Researchers are working to understand how both activating and inactivating NOTCH1 gene mutations can lead to cancer development.
Genetics Home Reference provides information about critical congenital heart disease, which is also associated with changes in the NOTCH1 gene.

Where is the NOTCH1 gene located?

Cytogenetic Location: 9q34.3
Molecular Location on chromosome 9: base pairs 136,494,443 to 136,545,785
The NOTCH1 gene is located on the long (q) arm of chromosome 9 at position 34.3.
The NOTCH1 gene is located on the long (q) arm of chromosome 9 at position 34.3.
More precisely, the NOTCH1 gene is located from base pair 136,494,443 to base pair 136,545,785 on chromosome 9.

Where can I find additional information about NOTCH1?

You and your healthcare professional may find the following resources about NOTCH1 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 NOTCH1 gene or gene products?

  • AOS5
  • AOVD1
  • hN1
  • neurogenic locus notch homolog protein 1
  • neurogenic locus notch homolog protein 1 preproprotein
  • Notch homolog 1, translocation-associated
  • TAN1
  • translocation-associated notch protein TAN-1

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 NOTCH1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 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.

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