Sequence in raw or FASTA format:
CDH23 cadherin-related 23 [Homo sapiens (human)]
|Entrez Gene ID||64072|
|Full Name||cadherin-related 23|
|General protein information|
|Organism||Homo sapiens (human)|
|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. [provided by RefSeq, May 2013].|
Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive
|Homo sapiens (human)||CDH23||NP_071407.4|
|Pan troglodytes (chimpanzee)||CDH23||XP_507839.3|
|Macaca mulatta (Rhesus monkey)||CDH23||XP_002805748.1|
|Canis lupus familiaris (dog)||CDH23||XP_003434519.1|
|Bos taurus (cattle)||CDH23||NP_001178135.1|
|Mus musculus (house mouse)||Cdh23||NP_075859.2|
|Rattus norvegicus (Norway rat)||Cdh23||NP_446096.1|
|Gallus gallus (chicken)||CDH23||XP_421595.3|
|Danio rerio (zebrafish)||cdh23||NP_999974.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||cdh23||XP_002939565.2|
|GO:0006816||calcium ion transport||IMP|
|GO:0007156||homophilic cell adhesion||IEA|
|GO:0007605||sensory perception of sound||IMP|
|GO:0016339||calcium-dependent cell-cell adhesion||NAS|
|GO:0045494||photoreceptor cell maintenance||IMP|
|GO:0050896||response to stimulus||IEA|
|GO:0050953||sensory perception of light stimulus||IMP|
|GO:0051480||cytosolic calcium ion homeostasis||IMP|
|GO:0016021||integral component of membrane||IEA|
|GO:0005509||calcium ion binding||IEA|
|UniProt||Q9H251, Q8N5B3, Q6P152, A5D6V9|
What is the normal function of the CDH23 gene?
The CDH23 gene provides instructions for making a protein called cadherin 23, a type of protein that helps cells stick together. Different cell types make different versions of this protein, including a short version in the light-sensitive layer in the back of the eye (the retina) and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the cell membrane as part of a protein complex that is involved in cell attachment.
Research suggests that the cadherin 23 protein complex shapes inner ear structures called hair bundles. These structures are made of stereocilia, which are hairlike projections that bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which is an essential process for normal hearing. The protein complex may organize hair bundles by cross-linking the stereocilia and helping to promote the transmission of sound waves.
In the retina, the role of the cadherin 23 protein complex is less well understood. Its presence in specialized cells that detect light and color (photoreceptor cells) suggests that it plays a critical role in the development and function of these cells.
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.