Occludin è un gene codificato dal simbolo OCLN. È noto anche come OCLN. Occludin ha una massa di 59.14kDa, una lunghezza di amminoacidi di 522, ed è implicato in Pseudo-TORCH syndrome 1.
Offriamo 18 anticorpi contro Occludin, allevati nel Coniglio e Topo, che sono adatti per WB e IHC con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the ELL/occludin family.
Modifica post-translazionale
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.
Posizione cellulare
Cell membrane. Cell junction > Tight junction.
