claudin 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Cholestasis
BIALLELIC, autosomal or pseudoautosomalIchthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomalEctodermal dysplasia
BIALLELIC, autosomal or pseudoautosomalFamilial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalneonatal ichthyosis-sclerosing cholangitis syndrome
dengue disease
neurodegenerative disease
placental abruption
hereditary disease
colorectal carcinoma
breast carcinoma
breast cancer
cancer
infection
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Claudin-1
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)
Curated MONDO disease pages that list CLDN1 among their top associated genes.
CLDN1 · O95832
Mean pLDDT
84.8/ 100
Confident
211 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
