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. [provided by RefSeq, Apr 2011]
Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
翻译后修饰
Phosphorylated upon DNA damage, probably by ATM or ATR. Dephosphorylated by PTPRJ. May be phosphorylated by PKC during translocation to cell-cell contacts.
相似性
Belongs to the ELL/occludin family.
Contains 1 MARVEL domain.
功能
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.