DLL3

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. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene.

Delta Like Canonical Notch Ligand 3

Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).

Compartment pattern specification Source: Ensembl
Negative regulation of neurogenesis Source: Ensembl
Notch signaling pathway Source: UniProtKB-KW
Paraxial mesoderm development Source: Ensembl
Skeletal system development Source: UniProtKB
Somitogenesis Source: Ensembl

Membrane

Spondylocostal dysostosis 1, autosomal recessive (SCDO1):
A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

Extracellular: 27-492
Helical: 493-513
Cytoplasmic: 514-618

Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation.