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CLDN1

Function

Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. Required for normal water homeostasis and to prevent excessive water loss through the skin, probably via an indirect effect on the expression levels of other proteins, since CLDN1 itself seems to be dispensable for water barrier formation in keratinocyte tight junctions (PubMed:23407391).

(Microbial infection) Acts as a co-receptor for hepatitis C virus (HCV) in hepatocytes (PubMed:17325668, PubMed:20375010, PubMed:24038151). Associates with CD81 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell (PubMed:20375010). Acts as a receptor for dengue virus (PubMed:24074594).

Involvement in disease

Ichthyosis-sclerosing cholangitis neonatal syndrome

NISCH

A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the claudin family.

Tissue Specificity

Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis.

Cellular localization

Alternative names

CLD1, SEMP1, UNQ481/PRO944, CLDN1, Claudin-1, Senescence-associated epithelial membrane protein

swissprot:O95832 entrezGene:9076 omim:603718

Other research areas