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DLL4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DLL4 gene

The DLL4 gene provides instructions for creating a protein essential to the Notch signaling pathway, which regulates blood vessel development and tissue growth.

Normal Function

The DLL4 gene provides instructions for making a protein that is part of a signaling pathway known as the Notch pathway, which is important for normal development of many tissues throughout the body. The DLL4 protein attaches to a receptor protein called Notch1, fitting together like a key into its lock. When a connection is made between DLL4 and Notch1, a series of signaling reactions is launched, affecting cell functions. In particular, signaling stimulated by DLL4 plays a role in the development of blood vessels before birth and the growth of new blood vessels (angiogenesis) throughout life.

Health Conditions Related to Genetic Changes

Adams-Oliver syndrome

At least nine DLL4 gene mutations have been found in people with Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet.

  • Some of these mutations lead to the production of an abnormally short protein that is likely broken down quickly, causing a shortage of DLL4.
  • Other mutations change single protein building blocks (amino acids) in the DLL4 protein, which are thought to alter the structure of the protein and impair its ability to function.

Loss of DLL4 function may underlie blood vessel abnormalities in people with Adams-Oliver syndrome; however, some people with DLL4-related Adams-Oliver syndrome do not have these abnormalities. It is not clear how loss of DLL4 function leads to the scalp and limb abnormalities characteristic of the condition, though researchers suggest these features may be due to abnormal blood vessel development before birth.

Other Names for This Gene

  • AOS6
  • delta 4
  • delta ligand 4
  • delta-like 4 (Drosophila)
  • delta-like 4 homolog
  • delta-like 4 protein
  • delta-like protein 4 precursor
  • delta4
  • drosophila Delta homolog 4
  • hdelta2
  • notch ligand delta-2
  • notch ligand DLL4

Genomic Location

The DLL4 gene is found on chromosome 15.

Frequently Asked Questions

The most frequent clues include a patch of missing skin (aplasia cutis congenita) on the scalp, often accompanied by limb abnormalities such as missing or malformed fingers or toes. These features are usually apparent at birth or within the first few weeks of life.
Management focuses on wound care for scalp lesions, physical therapy for limb malformations, and regular monitoring for vascular anomalies. Early referral to a vascular surgeon or dermatologist can help prevent complications such as bleeding or infection.
Yes, a definitive diagnosis is made by sequencing the DLL4 gene from a blood or saliva sample. The test looks for known pathogenic variants or novel changes that affect the protein’s structure or stability. A positive result is usually followed by a detailed review of the mutation’s impact on protein function.
Currently, no approved drugs directly replace DLL4 function. Experimental approaches, such as gene therapy or small molecules that enhance Notch signaling, are under investigation in research settings but are not yet clinically available.///
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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