Entrez 10683 | Ensembl ENSG00000090932 | |
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Aliases DLL3, SCDO1, pu, pudgy, delta like canonical Notch ligand 3 External IDs MGI: 1096877 HomoloGene: 7291 GeneCards: DLL3 | ||
Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene. Two transcript variants encoding distinct isoforms have been identified for this gene.
Contents
Function
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the Paraxial mesoderm.
Clinical significance
Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome. Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.
An experimental drug, rovalpituzumab tesirine, targets DLL3 as a possible treatment for lung cancer.