CDH23 (Cadherin 23) encodes a member of the cadherin superfamily of calcium-dependent cell adhesion molecules. CDH23 is essential for mechanotransduction in inner ear hair cells and is associated with Usher syndrome type 1D, the most common form of syndromic deafness-blindness["@kazmierczak2007"].
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CDH23 — Cadherin 23
Overview
Mermaid diagram (expand to render)
CDH23 (Cadherin 23) encodes a member of the cadherin superfamily of calcium-dependent cell adhesion molecules. CDH23 is essential for mechanotransduction in inner ear hair cells and is associated with Usher syndrome type 1D, the most common form of syndromic deafness-blindness["@kazmierczak2007"].
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| Property | Value | |----------|-------| | Gene Symbol | CDH23 | | Full Name | Cadherin 23 | | Chromosome | 10q22.1 | | NCBI Gene ID | 64061 | | Ensembl ID | ENSG00000107736 | | UniProt ID | Q9Y6M7 | | Protein Name | Cadherin-23 | | Associated Diseases | Usher syndrome type 1D, sensorineural hearing loss, retinitis pigmentosa |
Mechanism: Loss-of-function mutations cause complete loss of CDH23 function
Diagnosis: Genetic testing confirms diagnosis
Non-Syndromic Hearing Loss
DFNB12: Autosomal recessive nonsyndromic hearing loss
Variants: Hypomorphic mutations cause milder phenotype
Audiogram: Profound hearing loss across all frequencies
Retinitis Pigmentosa
Progressive degeneration: Photoreceptor degeneration leads to tunnel vision
Night blindness: Initial symptom
Therapeutic approaches: Gene therapy under development
Expression Patterns
CDH23 shows tissue-specific expression:
Inner ear: Exclusively in hair cells of cochlea and vestibular organs
Retina: Photoreceptor cells, specifically in the connecting cilium
Pineal gland: Detected in pinealocytes
Brain: Low expression in some brain regions
Interactions
| Interactor | Type | Function | |------------|------|----------| | PCDH15 | Cadherin | Forms tip link with CDH23 | | USH1C | Scaffold | Anchoring complex | | Myosin VIIA | Motor | Intracellular transport | | Whirlin | Scaffold | Stereocilia elongation |
Therapeutic Implications
Gene Therapy
AAV vectors: Adeno-associated virus delivery of functional CDH23
CRISPR/Cas9: Gene editing approaches for specific mutations
Animal models: Mouse models for therapeutic testing
Research Directions
Protein structure: Cryo-EM studies of tip link structure
Regeneration: Hair cell regeneration strategies
Biomarkers: CDH23 expression as disease marker
See Also
[PCDH15 Gene](/genes/pcdh15) — Protocadherin 15 (tip link partner)