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This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain, and a cytoplasmic region. This protein acts as a receptor for glycoprotein D of herpes simplex viruses 1 and 2, and pseudorabies virus and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome as well as non-syndromic cleft lip with or without cleft palate. Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini.
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