DLL4

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What is the official name of the DLL4 gene?

The official name of this gene is “delta-like 4 (Drosophila).”

DLL4 is the gene's official symbol. The DLL4 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 DLL4 gene?

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 (the Notch pathway), affecting cell functions. In particular, signaling stimulated by DLL4 plays a role in development of blood vessels before birth and growth of new blood vessels (angiogenesis) throughout life.

How are changes in the DLL4 gene related to health conditions?

Adams-Oliver syndrome - caused by mutations in the DLL4 gene: 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 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. These changes are thought to alter the structure of the protein, impairing 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. Researchers suggest these features may be due to abnormal blood vessel development before birth.

Where is the DLL4 gene located?

Cytogenetic Location: 15q14

Molecular Location on chromosome 15: base pairs 40,929,333 to 40,939,060

The DLL4 gene is located on the long (q) arm of chromosome 15 at position 14.

More precisely, the DLL4 gene is located from base pair 40,929,333 to base pair 40,939,060 on chromosome 15.

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

Where can I find additional information about DLL4?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the DLL4 gene or gene products?

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

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 DLL4?

acids ; angiogenesis ; cell ; gene ; ligand ; precursor ; protein ; receptor ; syndrome

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

References (5 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