The DSL domain is required for binding to the Notch receptor.
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).
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.
Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation.
Delta-like protein 3, Drosophila Delta homolog 3, Delta3, DLL3
Proteins
Oncology
64618Da
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