Occludin est un gène codé par le symbole OCLN. Il est également connu sous le nom de OCLN. Occludin a une masse de 59.14kDa, une longueur d'acide aminé de 522, et est impliqué dans Pseudo-TORCH syndrome 1.
Nous proposons 18 des anticorps contre Occludin, élevé dans Lapin et Souris, qui sont appropriés pour le WB et IHC avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions.
Résumé Entrez
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5.
Spécificité tissulaire
Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
Implication dans la maladie
Pseudo-TORCH syndrome 1: An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.
Similitudes de séquence
Belongs to the ELL/occludin family.
Modification post-traductionnelle
Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact with TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP1.
Localisation cellulaire
Cell membrane. Cell junction > Tight junction.
