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CDH23 cadherin-related 23 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001171930 Homo sapiens cadherin-related 23 (CDH23), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001171931 Homo sapiens cadherin-related 23 (CDH23), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001171932 Homo sapiens cadherin-related 23 (CDH23), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001171933 Homo sapiens cadherin-related 23 (CDH23), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001171934 Homo sapiens cadherin-related 23 (CDH23), transcript variant 7, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001171935 Homo sapiens cadherin-related 23 (CDH23), transcript variant 8, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001171936 Homo sapiens cadherin-related 23 (CDH23), transcript variant 9, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_022124 Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_052836 Homo sapiens cadherin-related 23 (CDH23), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006717940 PREDICTED: Homo sapiens cadherin-related 23 (CDH23), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006717941 PREDICTED: Homo sapiens cadherin-related 23 (CDH23), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006717942 PREDICTED: Homo sapiens cadherin-related 23 (CDH23), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol CDH23
Entrez Gene ID 64072
Full Name cadherin-related 23
Synonyms CDHR23, USH1D
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q22.1

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].
Disorder

MIM: 605516

Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive

mRNA Protein Product Sequence Price Select
NM_001171930, 284925127 NP_001165401, 284925128 cadherin-23 isoform 3 precursor ORF Sequence $1500.00
NM_001171931, 284925129 NP_001165402, 284925130 cadherin-23 isoform 4 precursor ORF Sequence $1500.00
NM_001171932, 284925131 NP_001165403, 284925132 cadherin-23 isoform 5 precursor ORF Sequence $400.00
NM_001171933, 284925133 NP_001165404, 284925134 cadherin-23 isoform 6 ORF Sequence $1500.00
NM_001171934, 284925135 NP_001165405, 284925136 cadherin-23 isoform 7 ORF Sequence $1500.00
NM_001171935, 284925137 NP_001165406, 284925138 cadherin-23 isoform 8 ORF Sequence $300.00
NM_001171936, 284925139 NP_001165407, 284925140 cadherin-23 isoform 9 ORF Sequence $250.00
NM_022124, 284925125 NP_071407, 189571674 cadherin-23 isoform 1 precursor ORF Sequence $-1.00
NM_052836, 284925126 NP_443068, 16507964 cadherin-23 isoform 2 precursor ORF Sequence $550.00
XM_006717940, 578819687 XP_006718003, 578819688 cadherin-23 isoform X1 ORF Sequence $-1.00
XM_006717941, 578819689 XP_006718004, 578819690 cadherin-23 isoform X2 ORF Sequence $-1.00
XM_006717942, 578819691 XP_006718005, 578819692 cadherin-23 isoform X3 ORF Sequence $-1.00
Homo sapiens (human)CDH23NP_071407.4
Pan troglodytes (chimpanzee)CDH23XP_507839.3
Macaca mulatta (Rhesus monkey)CDH23XP_002805748.1
Canis lupus familiaris (dog)CDH23XP_003434519.1
Bos taurus (cattle)CDH23NP_001178135.1
Mus musculus (house mouse)Cdh23NP_075859.2
Rattus norvegicus (Norway rat)Cdh23NP_446096.1
Gallus gallus (chicken)CDH23XP_421595.3
Danio rerio (zebrafish)cdh23NP_999974.1
Xenopus (Silurana) tropicalis (western clawed frog)cdh23XP_002939565.2
Process
IDNameEvidence
GO:0006816calcium ion transportIMP
GO:0007156homophilic cell adhesionIEA
GO:0007601visual perceptionIEA
GO:0007605sensory perception of soundIMP
GO:0016339calcium-dependent cell-cell adhesionNAS
GO:0045494photoreceptor cell maintenanceIMP
GO:0050896response to stimulusIEA
GO:0050953sensory perception of light stimulusIMP
GO:0050957equilibrioceptionIMP
GO:0051480cytosolic calcium ion homeostasisIMP
Component
IDNameEvidence
GO:0005886plasma membraneIEA
GO:0016020membraneNAS
GO:0016021integral component of membraneIEA
GO:0032420stereociliumISS
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GeneCards CDH23
UniProt Q9H251, Q8N5B3, Q6P152, A5D6V9
Vega OTTHUMG00000019347
MIM 605516
Ensembl ENSG00000107736
HGNC 13733
HPRD 05699

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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