Protéines DLL4

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DLL4 est un gène codé par le symbole DLL4. D'autres noms incluent: Delta-like protein 4; Drosophila Delta homolog 4; Delta4. DLL4 a une masse de 74.61kDa, une longueur d'acide aminé de 685, et est impliqué dans Adams-Oliver syndrome 6.

Nous proposons 3 DLL4 protéines

Informations sur les Gènes et les Protéines

Résumé UniProt
Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).
Résumé Entrez
This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain.
Spécificité tissulaire
Expressed in vascular endothelium.
Implication dans la maladie
Adams-Oliver syndrome 6: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
Localisation cellulaire
Cell membrane.
SDS-PAGE - Recombinant Human DLL4 Protein (6xHis Tag) (A324971) - Antibodies.com
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