General description

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.

Immunogen

Recombinant fusion protein containing a sequence corresponding to amino acids 263-522 of human Occludin (NP_002529.1).

Physical form

PBS with 0.02% sodium azide,50% glycerol,pH7.3.

Storage and Stability

Store at -20℃. Avoid freeze / thaw cycles.