Gene: CDH23

Alternate names for this Gene: CDHR23|PITA5|USH1D

Gene Summary: This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: cadherin related 23

Type of Gene: protein-coding

Gene: CDH23-AS1

Alternate names for this Gene: C10orf106|NCRNA00223|bA327E2.3

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: CDH23 antisense RNA 1

Type of Gene: ncRNA

rs397517328 in CDH23;CDH23-AS1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs796051861 in CDH23;CDH23-AS1 gene and Usher Syndrome, Type I PMID 15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.