CLDN5 Chromosome 22
Claudin 5
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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. 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]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000184113
Associated Conditions (3)
CLDN5-related neurodevelopmental disorder
Inborn genetic diseases
Syndromic disease
Key Variants
RS2517704639
Likely pathogenic
CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder
Health Risk
RS2517704684
Likely pathogenic
CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder
Health Risk
RS2517704673
Pathogenic
CLDN5-related neurodevelopmental disorder, Inborn genetic diseases, Syndromic disease
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517704639 | Health Risk | Likely pathogenic | CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder |
| RS2517704684 | Health Risk | Likely pathogenic | CLDN5-related neurodevelopmental disorder, CLDN5-related neurodevelopmental disorder |
| RS2517704673 | Health Risk | Pathogenic | CLDN5-related neurodevelopmental disorder, Inborn genetic diseases, Syndromic disease |