Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
DLL3

DLL3

Reviewed February 2011

What is the official name of the DLL3 gene?

The official name of this gene is “delta-like 3 (Drosophila).”

DLL3 is the gene's official symbol. The DLL3 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 DLL3 gene?

The DLL3 gene provides instructions for making a protein that helps control (regulate) the Notch pathway, an important pathway in embryonic development. The Notch pathway plays a critical role in the development of vertebrae. Specifically, the DLL3 protein and the Notch pathway are involved in separating future vertebrae from one another during early development, a complex process called somite segmentation. Although the exact mechanism of somite segmentation is unclear, it appears to require the activity of several proteins in the Notch pathway, including the NOTCH1 protein, to be turned on and off in a specific pattern (oscillate).

The DLL3 protein regulates the activity of the NOTCH1 protein. The DLL3 protein attaches (binds) to the inactive NOTCH1 protein and isolates (sequesters) it or marks it to be broken down so that it cannot be activated.

How are changes in the DLL3 gene related to health conditions?

spondylocostal dysostosis - caused by mutations in the DLL3 gene

More than 25 mutations in the DLL3 gene have been found to cause spondylocostal dysostosis type 1, the most common type of spondylocostal dysostosis. This condition is characterized by the abnormal development of bones in the spine and ribs. The known mutations in the DLL3 gene prevent the production of any protein or lead to the production of an abnormally short, nonfunctional protein. When the DLL3 protein is nonfunctional or absent, the NOTCH1 protein is abnormally active and does not oscillate, so somite segmentation does not occur properly. This results in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis type 1.

Where is the DLL3 gene located?

Cytogenetic Location: 19q13

Molecular Location on chromosome 19: base pairs 39,498,916 to 39,508,480

The DLL3 gene is located on the long (q) arm of chromosome 19 at position 13.

The DLL3 gene is located on the long (q) arm of chromosome 19 at position 13.

More precisely, the DLL3 gene is located from base pair 39,498,916 to base pair 39,508,480 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DLL3?

You and your healthcare professional may find the following resources about DLL3 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 DLL3 gene or gene products?

  • delta3
  • delta-like protein 3
  • delta-like protein 3 isoform 1 precursor
  • delta-like protein 3 isoform 2 precursor
  • DLL3_HUMAN
  • drosophila Delta homolog 3
  • SCDO1

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 DLL3?

embryonic ; gene ; malformation ; precursor ; protein

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

See also Understanding Medical Terminology.

References (11 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.

 
Reviewed: February 2011
Published: July 27, 2015