OCLN Peptide - N-Terminal Region Blocking Peptide

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]

occludin: 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. Interacts with TJP1/ZO1 and with VAPA. Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis. Belongs to the ELL/occludin family. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Cell adhesion; Membrane protein, integral; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 5q13.1

Cellular Component: tight junction; apicolateral plasma membrane; endocytic vesicle; apical plasma membrane; integral to membrane; plasma membrane; intercellular junction; cytoplasmic vesicle; cell junction; cytosol

Molecular Function: thiopurine S-methyltransferase activity; protein domain specific binding; protein binding; structural molecule activity

Biological Process: methylation; intercellular junction assembly and maintenance; apoptosis; S-adenosylmethionine metabolic process; S-adenosylhomocysteine metabolic process; protein complex assembly; cell structure disassembly during apoptosis

Disease: Band-like Calcification With Simplified Gyration And Polymicrogyria