Human DLL3 Recombinant Rabbit Monoclonal Antibody - BSA and Azide free (Detector) [PSH25-30] (HA724521)

UNIPROT #

Q9NYJ7

PROTEIN NAME

DLL3

SYNONYMS

Delta-like protein 3 antibody;Drosophila Delta homolog 3 antibody;Delta3 antibody;DLL3 antibody

SUBCELLULAR LOCATION

Membrane.

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. 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. 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.