Aliases for CLDN5 Gene
External Ids for CLDN5 Gene
Previous HGNC Symbols for CLDN5 Gene
Previous GeneCards Identifiers for CLDN5 Gene
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
GeneCards Summary for CLDN5 Gene
CLDN5 (Claudin 5) is a Protein Coding gene. Diseases associated with CLDN5 include Velocardiofacial Syndrome and Brain Edema. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN3.
UniProtKB/Swiss-Prot Summary for CLDN5 Gene
Plays a major role in tight junction-specific obliteration of the intercellular space.