DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; M GC102761; USH1D; CDHR23

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

The antibody detects endogenous level of total CDH23 antibody.

Antibodies were purified by affinity purification using immunogen.

Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

1.0 mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-CDH23 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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. Alternative splice variants encoding different isoforms have been described.

Total protein Ab

Western Blot (WB), Immunohistochemistry (IHC)

Western blotting: 1:500 - 1:2000
Immunohistochemistry: 1:50 - 1:200

Western blot analysis of extracts of mouse brain, using CDH23 antibody.

Immunohistochemistry analysis of paraffin-embedded human lung cancer tissue using CDH23 antibody.

23,900 Da

cadherin-related 23

cadherin-23

Cadherin-23

KIAA1774; KIAA1812??[Similar Products]

CAD23_HUMAN

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]

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: Membrane protein, integral; Motility/polarity/chemotaxis; Cell adhesion

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: stereocilium; membrane; integral to membrane; plasma 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; response to stimulus; calcium-dependent cell-cell adhesion; photoreceptor cell maintenance; homophilic cell adhesion; equilibrioception

Disease: Deafness, Autosomal Recessive 12; Usher Syndrome, Type Id

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