USH1F; DFNB23; CDHR15; Deafness,Autosomal Recessive 23; Cadherin-Related Family Member 15
Species:
Human
Sample type:
tissue homogenates, cell lysates or other biological fluids.
Experimental method:
Sandwich
Shelf life:
12 months
Gene ID:
65217
UniProt ID:
Q96QU1
Components:
1. Pre-coated, ready to use 96-well strip plate 1
2. Plate sealer for 96 wells 2
3. Standard 2
4. Diluents buffer: 1×45 mL
5. Detection Reagent A: 1×120 μL
6. Detection Reagent B: 1×120 μL
7. TMB Substrate: 1×9 mL
8. Stop Solution: 1×6 mL
9. Wash Buffer (30× concentrate): 1×20 mL
Background
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.
