Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tight junction protein ZO-1

The TJP1 gene encodes a tight junction protein. In animal experiments, double knock-out mice are lethal. In humans no disease is associated to this gene yet.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:



Willott E et. al. (1992) Localization and differential expression of two isoforms of the tight junction protein ZO-1.


Balda MS et. al. (1993) Two classes of tight junctions are revealed by ZO-1 isoforms.


Willott E et. al. (1993) The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions.


Mohandas TK et. al. (1995) Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7.


Itoh M et. al. (1999) Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins.


D'Atri F et. al. (2002) Evidence for a functional interaction between cingulin and ZO-1 in cultured cells.


Amieva MR et. al. (2003) Disruption of the epithelial apical-junctional complex by Helicobacter pylori CagA.


Nielsen PA et. al. (2003) Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).


Tang Y et. al. (2008) Effect of alcohol on miR-212 expression in intestinal epithelial cells and its potential role in alcoholic liver disease.


Katsuno T et. al. (2008) Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells.


Huo L et. al. (2011) Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration.

Update: Sept. 26, 2018