Cadherin-23 represents the first in this family of calcium binding proteins of which mutations in the extracellular calcium binding domain contribute to an inherited disorder, Usher syndrome type 1D (USH1D).
Patients with USH1D exhibit congenital sensorineural hearing loss, vestibular dysfunction, and visual impairment due to early onset of retinitis pigmentosa (RP).
In the inner ear, cadherin-23 interacts with myosin VIIIa and harmonin to form a functional network duing hair cell differentiation, and in the retina to assemble a supra-molecular complex contributing to the organization of the cytoskeletal matrices of the pre- and post-synaptic region.
A number of cadherin-23 splice variants exist in association with various phenotypic expression, indicating that differential mutations result in variable presentation of the disease.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:1000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size:50ul
Host:rabbit
Source Antibody:human
Grade:Affinity Purified
Purity:Purified by immunoaffinity chromatography.
Form:Supplied as a liquid in PBS, pH 7.2, 15mM sodium azide.
Specificity:Recognizes human CDH23.
Isotype:IgG
Calc Applications Abbrev:WB
Calc Crossreactivity:Hu
Immunogen:Synthetic peptide corresponding to residues in human CDH23.