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DLL3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DLL3 gene

The DLL3 gene provides instructions for creating a protein essential for the Notch signaling pathway, which regulates embryonic development and the formation of the spine.

Normal Function

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, in 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 (oscillate) in a specific pattern.

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.

Health Conditions Related to Genetic Changes

Spondylocostal dysostosis

At least 20 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.

Other Names for This Gene

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

Frequently Asked Questions

Management for spondylocostal dysostosis type 1 focuses on addressing the skeletal and respiratory issues. Treatment often involves orthopedic interventions to manage spinal curvature, such as bracing or surgery, to improve spinal stability and function. For children with significant breathing difficulties due to a small chest cavity, respiratory support may be necessary, and in some severe cases, surgical procedures to expand the chest may be considered. Regular monitoring by a team of specialists, including orthopedists, pulmonologists, and geneticists, is crucial to optimize care and improve quality of life.
Spondylocostal dysostosis type 1, linked to DLL3 gene mutations, primarily affects the development of the spine and ribs. Key physical signs include abnormally formed and fused vertebrae (bones of the spine), which can lead to a shortened trunk and neck, and a curved spine (scoliosis or kyphosis). The ribs may also be malformed or fused, sometimes leading to a small chest cavity. These skeletal abnormalities can sometimes cause breathing difficulties due to restricted lung development and capacity.
Spondylocostal dysostosis type 1 is often suspected based on characteristic skeletal abnormalities observed during prenatal ultrasound scans, particularly in the third trimester, or shortly after birth through physical examination and X-rays. Genetic testing for mutations in the DLL3 gene can confirm the diagnosis. In some cases, a diagnosis might be made later in childhood if symptoms like spinal curvature or respiratory issues become more apparent.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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