蛋白名称
Delta-like protein 3 (Drosophila Delta homolog 3) (Delta3)
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
IHC 1:200-1:1000; WB 1:500-1:2000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200; Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
背景
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. [provided by RefSeq, Jul 2008],
功能
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.,
