CLDN10 Chromosome 13
Claudin 10
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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. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000134873
Associated Conditions (1)
HELIX syndrome
Key Variants
RS2501666805
Likely pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
RS1555299783
Pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
RS2501666796
Pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
RS759408749
Pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
RS930701747
Pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
RS2043960821
Pathogenic/Likely pathogenic
HELIX syndrome, HELIX syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2501666805 | Health Risk | Likely pathogenic | HELIX syndrome, HELIX syndrome |
| RS1555299783 | Health Risk | Pathogenic | HELIX syndrome, HELIX syndrome |
| RS2501666796 | Health Risk | Pathogenic | HELIX syndrome, HELIX syndrome |
| RS759408749 | Health Risk | Pathogenic | HELIX syndrome, HELIX syndrome |
| RS930701747 | Health Risk | Pathogenic | HELIX syndrome, HELIX syndrome |
| RS2043960821 | Health Risk | Pathogenic/Likely pathogenic | HELIX syndrome, HELIX syndrome |