Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Occludin

The OCLN gene is involved in the cytokin-mediated regulation of permeability of tight junctions. Mutations cause autosomal recessive Pseudo-TORCH syndrome 1.

Genetests:

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

Related Diseases:

Pseudo-TORCH syndrome 1
OCLN

References:

1.

Ando-Akatsuka Y et al. (1996) Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues.

external link
2.

Saitou M et al. (2000) Complex phenotype of mice lacking occludin, a component of tight junction strands.

external link
3.

Mankertz J et al. (2002) Gene expression of the tight junction protein occludin includes differential splicing and alternative promoter usage.

external link
4.

Sánchez-Pulido L et al. (2002) MARVEL: a conserved domain involved in membrane apposition events.

external link
5.

Barrios-Rodiles M et al. (2005) High-throughput mapping of a dynamic signaling network in mammalian cells.

external link
6.

Briggs TA et al. (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

external link
7.

Argaw AT et al. (2009) VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.

external link
8.

Ploss A et al. (2009) Human occludin is a hepatitis C virus entry factor required for infection of mouse cells.

external link
9.

Du D et al. (2010) The tight junction protein, occludin, regulates the directional migration of epithelial cells.

external link
10.

O'Driscoll MC et al. (2010) Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues