Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Occludin

Das OCLN-Gen kodiert ein Protein, welches die Zytokin-regulierte Permeabilität der tight junction beeinflusst. Mutationen führen zum autosomal rezesiven Pseudo-TORCH-Syndrom 1.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Pseudo-TORCH-Syndrom 1
OCLN

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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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.

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Update: 14. August 2020
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