CLDN1 gene

claudin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]

From UniProt:

(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes (PubMed:17325668). Acts as a receptor for dengue virus (PubMed:24074594).

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).

From NCBI Gene:

  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

From UniProt:

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. [MIM:607626]

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28

Molecular Location: base pairs 190,305,701 to 190,322,446 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q28, which is the long (q) arm of chromosome 3 at position 28
  • CLD1
  • ILVASC
  • SEMP1