Gene: CLDN11

Alternate names for this Gene: OSP|OTM

Gene Summary: 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, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.2

Description of this Gene: claudin 11

Type of Gene: protein-coding

rs6444931 in CLDN11 gene and Mental disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs6444931 in CLDN11 gene and Psychotic Disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.