Symbol: Name: ID: |
CDH23 cadherin-related 23 GFS:3240 |
Gene name: | CDH23 |
Chromosome: | 10q22.1 |
Previous Symbols: | DFNB12, USH1D |
Previous Names: | cadherin related 23, "cadherin-like 23" |
Aliases: | CDHR23 |
Name Aliases: | cadherin-related family member 23 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1890219 | Rat Genome Database ID: | RGD:619760 |
HGNC ID: | HGNC:13733 | RefSeq IDs: | NM_001171930 |
Entrez Gene ID: | 64072 | Ensembl Gene ID: | ENSG00000107736 |
VEGA IDs: | OTTHUMG00000019347 | UniProt ID: | Q9H251 |
UCSC ID: | uc001jrx.3 | OMIM ID: | 605516 |
Pubmed: | PMID11090341 | ||
CCDS IDs: | CCDSCCDS44429.1 |
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
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. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010].
Function: Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. Cadherin 23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development (By similarity).
Products for CDH23 gene
Catalog | Product Name | Application | Company |
GFS:E03240 | cadherin-related 23; ELISA kit | ELISA | n/a |
GFS:A03240 | cadherin-related 23; Anti | ANTIBODIES | n/a |
GFS:P03240 | cadherin-related 23; Protien | Protien | n/a |