2024年12月24日 · CDH23 (Cadherin Related 23) is a Protein Coding gene. Diseases associated with CDH23 include Pituitary Adenoma 5, Multiple Types and Deafness, Autosomal Recessive 12. Among its related pathways are Sensory processing of sound and Olfactory Signaling Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

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 helps to shape structures in the inner ear called hair bundles.

Our series of studies demonstrated that CDH23 variants cause a broad range of phenotypes of non-syndromic hearing loss (DFNB12); from congenital profound hearing loss to late-onset high-frequency-involved progressive hearing loss.

Cadherin-23 (CDH23) mediates homotypic and heterotypic cell-cell adhesions in cancer cells. However, the epigenetic regulation, the biological functions, the mechanisms and the prognostic value of CDH23 in diffuse large B-cell lymphoma (DLBCL) are still unclear.

HGNC Approved Gene Symbol: CDH23. Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38) : 10:71,396,920-71,815,947 (from NCBI) The CDH23 gene encodes a member of the cadherin superfamily, which comprises calcium-dependent cell-cell adhesion glycoproteins (summary by Zhang et al., 2017).

Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D).

CDH23 is expressed in retina and cochlea, and encodes otocadherin —a protein containing an extracellular domain with multiple cadherin repeats, a transmembrane domain and a cytoplasmic domain that lacks sequence similarity to all other proteins (Fig. 1).

2024年2月8日 · Tip-link filaments in sensory hair cells of the inner ear are made of homodimers of cadherin-23 (CDH23) and protocadherin-15 (PCDH15), two proteins essential for hearing and balance and involved in inherited deafness.

Several dozen mutations in the CDH23 gene have been identified in people with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of hearing loss designated as DFNB12.

Cadherin-23 (Cdh23), a long-chain non-classical cadherin, exhibits strong homophilic and heterophilic binding. The physiological relevance of strong heterophilic binding with protocadherin-15 at neuroepithelial tip links is well-studied.