Usher Syndrome 1C (Autosomal Recessive, Severe, Protein, USH 1C, USH1C, USH-1C, Ush1cpst, AIE 75, Autoimmune Enteropathy Related Antigen AIE 75, Deafness Autosomal Recessive 18, DFNB18, Harmonin, NY-CO-37, NY-CO-38, PDZ-45, PDZ73, Renal Carcinoma Antigen

USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1c. It is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Defects in USH1C are also the cause of nonsyndromic recessive deafness.\n\nApplications: \nSuitable for use in ELISA and Western Blot. Other applications not tested.\n\nRecommended Dilution:\nOptimal dilutions to be determined by the researcher.\n\nCellular Localization: Nuclear\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, add sterile glycerol (40-50%), aliquot and store at -20 degrees C. Aliquots are stable for at least 3 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

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SPECIFICATIONS

Catalog Number

U4080-15

Size

100ug

Applications

ELISA, WB

Hosts

Goat

Reactivities

Hum

Form

Supplied as a liquid in TBS, pH 7.2, 0.5% BSA, 0.02% sodium azide.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

Verpy E et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 26:51-5 (2000). <PUBMED:10973247>

Additional Info

Species Crossreactivity: Tested: Human. Expected to crossreact with Human and Mouse due to sequence homology.