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- CDH23 abstract "Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments. 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 novel cadherin-like gene. Two alternative splice variants have been identified, encoding different isoforms. Additional variants have been observed but their full-length nature has not been determined.".
- CDH23 entrezgene "64072".
- CDH23 wikiPageExternalLink NBK1265.
- CDH23 wikiPageID "14267168".
- CDH23 wikiPageRevisionID "606311523".
- CDH23 hasPhotoCollection CDH23.
- CDH23 requireManualInspection "no".
- CDH23 summaryText "This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments. The gene is located in a region containing the human loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene. Two alternative splice variants have been identified, encoding different isoforms. Additional variants have been observed but their full-length nature has not been determined.".
- CDH23 updateCitations "yes".
- CDH23 updatePage "yes".
- CDH23 updateProteinBox "yes".
- CDH23 updateSummary "yes".
- CDH23 type Biomolecule.
- CDH23 type Protein.
- CDH23 type BiologicalObject.
- CDH23 comment "Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain.".
- CDH23 label "CDH23".
- CDH23 sameAs m.03czpxn.
- CDH23 sameAs Q5009934.
- CDH23 sameAs Q5009934.
- CDH23 sameAs CDH23.
- CDH23 wasDerivedFrom CDH23?oldid=606311523.
- CDH23 isPrimaryTopicOf CDH23.