CLDN1

CLDN1

A gene on chromosome 3q28-q29 that encodes claudin-1, an integral membrane protein of the claudin family, the members of which form part of tight junction strands, providing a continuous seal around cells and serving as a physical barrier to prevent solutes and water from passing freely into the interstitial space.

Molecular pathology
CLDN1 loss of function mutations cause neonatal ichthyosis-sclerosing cholangitis syndrome.

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