Q9NYJ7

Delta-like protein 3 (DLL3) is a ligand for the Notch signaling pathway. It inhibits primary neurogenesis. DLL3 plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm. Defects in DLL3 are the cause of Spondylocostal dysostosis autosomal recessive type 1 (SCDO1). Mutations in DLL3 gene cause truncal shortening relative to their limbs, which leads to abdominal protrusion, abnormal spinal curvature and sometimes a plagiocephaly-torticollis sequence. It may be required to divert neurons along a specific differentiation pathway.