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OCLN

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.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Urothelial cells, Glandular and luminal cells, Alveolar cells type 1)

Immune cell specificity

Immune cell enhanced (neutrophil)

Cell line specificity

Cell line enhanced (A-431, CAPAN-2, HaCaT, RPTEC TERT1, SK-BR-3)

Interaction

Interacts with TJP1/ZO1 (PubMed:19017651). Interacts with VAPA (PubMed:10523508). Interacts with CLDN1, CLDN6, CLDN9, CLDN11, CLDN12 and CLDN17 (PubMed:20375010). Interacts with PLSCR1 (PubMed:21806988). Interacts with LSR, ILDR1 and ILDR2 (PubMed:23239027).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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