Humpath.com - Human pathology

Home > A. Molecular pathology > OCLN

OCLN

Wednesday 3 January 2018

WKP

Definition: Occludin is a protein that in humans is encoded by the OCLN gene. Occludin is a 65-kDa (522-amino acid polypeptide -human) integral plasma-membrane protein located at the tight junctions, described for the first time in 1993 by Shoichiro Tsukita.

Together with the Claudin group of proteins, it is the main component of the tight junctions.

Pathology

Disruption of occludin regulation is an important aspect of a number of diseases. Strategies to prevent and/or reverse occludin downregulation may be an important therapeutic target.

Mutation of occludin are thought to be a cause of band-like calcification with simple gyration and polymicrogyria (BLC-PMG). BLC-PMG is an autosomal recessive neurologic disorder.

Images

- Radiology and Pathology in a Child With Calcification and Simplified Gyration. 2017. https://t.co/TrtRdNpg2S doi : 10.1016/j.pediatrneurol.2017.09.001