Claudin 1 est un gène codé par le symbole CLDN1. D'autres noms incluent: Claudin-1; Senescence-associated epithelial membrane protein; CLDN1; CLD1; SEMP1. Claudin 1 a une masse de 22.74kDa, une longueur d'acide aminé de 211, et est impliqué dans Ichthyosis-sclerosing cholangitis neonatal syndrome.
Nous proposons 15 des anticorps contre Claudin 1, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis.
Implication dans la maladie
Ichthyosis-sclerosing cholangitis neonatal syndrome: A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization.
Similitudes de séquence
Belongs to the claudin family.
Localisation cellulaire
Cell junction > Tight junction. Cell membrane. Basolateral cell membrane.
Associates with CD81 and the CLDN1-CD81 complex localizes to the basolateral cell membrane.
