Delta-like 3 genes is mapped on chromosome 19q13 that encodes delta protein ligand family functions as Notch ligands characterized by DSL domain, EGF repeats and transmembrane domain. It has two distinct transcript variants encoding isoforms.
Delta-like 3 demonstrate transient and restricted expression during embryogenesis functions in the early formation pattern of the embryo in which segmentation of the embryonic body relies on a molecular clock that needsNotch signaling for proper functioning thereby alteration of DLL3 results in abnormal segmentation of the vertebral column showing that segmentation clock acts during embryonic development.
Delta-like 3 mutations cause axial skeletal defects in spondylocostal dysostosis, a disorder characterized by multiple vertebral segmentation defects and rib anomalies and associated in congenital scoliosis. Its mutation is typified by vertebral changes wherein affected individuals known at birth by shortening of the neck and trunk though does not have respiratory insufficiency yet vertebral and costal imperfection is readily decipherable on babygrams involving the whole spine and multiple ribs.
Gene name: DLL3
Protein name: Delta-like protein 3