CLDN9 Chromosome 16
Claudin 9
Upload your DNA to see your personal genotypes for variants in CLDN9.
What This Gene Does
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. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000213937
Associated Conditions (3)
Pendred syndrome
Hearing loss
autosomal recessive 116
Key Variants
RS1567404609
Conflicting classifications of pathogenicity
Pendred syndrome, Hearing loss, autosomal recessive 116
Health Risk
RS34769999
Likely pathogenic
Hearing loss, autosomal recessive 116, Hearing loss
Health Risk
RS2072541692
Pathogenic
Hearing loss, autosomal recessive 116, Hearing loss
Health Risk
RS773682747
Pathogenic/Likely pathogenic
Hearing loss, autosomal recessive 116, Hearing loss
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567404609 | Health Risk | Conflicting classifications of pathogenicity | Pendred syndrome, Hearing loss, autosomal recessive 116 |
| RS34769999 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive 116, Hearing loss |
| RS2072541692 | Health Risk | Pathogenic | Hearing loss, autosomal recessive 116, Hearing loss |
| RS773682747 | Health Risk | Pathogenic/Likely pathogenic | Hearing loss, autosomal recessive 116, Hearing loss |