NP_001165401.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
23,900 Da
NCBI Official Full Name
cadherin-23 isoform 3
NCBI Official Synonym Full Names
cadherin-related 23
NCBI Protein Information
cadherin-23
UniProt Protein Name
Cadherin-23
UniProt Synonym Protein Names
Otocadherin
UniProt Synonym Gene Names
UniProt Entry Name
CAD23_HUMAN
NCBI Summary for CDH23
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]
UniProt Comments for CDH23
CDH23: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 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. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12). DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 8 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: stereocilium; membrane; plasma membrane; integral to membrane
Molecular Function: protein binding; calcium ion binding
Biological Process: sensory perception of sound; cytosolic calcium ion homeostasis; visual perception; calcium ion transport; sensory perception of light stimulus; photoreceptor cell maintenance; response to stimulus; calcium-dependent cell-cell adhesion; homophilic cell adhesion; equilibrioception
Disease: Deafness, Autosomal Recessive 12; Usher Syndrome, Type Id
Research Articles on CDH23
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Products associated with CDH23 sirna
Diseases associated with CDH23 sirna
Organs/Tissues associated with CDH23 sirna
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