DLL3

Domain

The DSL domain is required for binding to the Notch receptor.

Function

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).

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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

Cellular localization

• Membrane
• Single-pass type I membrane protein

Alternative names

Delta-like protein 3, Drosophila Delta homolog 3, Delta3, DLL3

Database links

swissprot:Q9NYJ7 entrezGene:10683 omim:602768

Other research areas

• Epigenetics