DLL3 Polyclonal Antibody

disease:Defects in DLL3 are the cause of spondylocostal dysostosis autosomal recessive type 1 (SCDO1) [MIM:277300]. Autosomal recessive spondylocostal dysostosis is a rare 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.,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.,PTM:Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation.,similarity:Contains 1 DSL domain.,similarity:Contains 6 EGF-like domains.,subunit:Can bind and activate Notch-1 or another Notch receptor.,