DLL4 gene

delta like canonical Notch ligand 4

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.

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.

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1

Molecular Location: base pairs 40,929,340 to 40,939,073 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1
  • 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