General description
DFNA5 (deafness, autosomal dominant 5) is a putative tumor suppressor gene, first identified in a Dutch family with autosomal dominant hearing loss. This gene is located on human chromosome 7p15, and is expressed in brain, cochlea, kidney and placenta. The encoded protein is composed of 496 amino acids. It is also called ICERE-1 (inversely correlated with estrogen receptor expression) as it has a suppressed expression in estrogen receptor (ER)-positive breast cancer as opposed to ER-negative tumors.
Immunogen
Non-syndromic hearing impairment protein 5 recombinant protein epitope signature tag (PrEST)
Application
Anti-DFNA5 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project . Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem/physiol Actions
DFNA5 (deafness, autosomal dominant 5) is associated with autosomal dominant nonsyndromic hereditary hearing loss (NSHHL), and four mutations in this gene have been identified which lead to hearing loss. These mutations occur in introns 7 and 8 and usually cause the skipping of exon 8, leading to a truncated DFNA5 protein. This gene is epigenetically suppressed in various tumors such as, breast, gastric and colorectal cancers. The degree of DFNA5 methylation in breast cancer is associated with lymph node metastasis. This gene is also down-regulated in hepatocellular carcinoma (HCC).
Features and Benefits
Prestige Antibodies® are highly characterized and extensively validated antibodies with the added benefit of all available characterization data for each target being accessible via the Human Protein Atlas portal linked just below the product name at the top of this page. The uniqueness and low cross-reactivity of the Prestige Antibodies® to other proteins are due to a thorough selection of antigen regions, affinity purification, and stringent selection. Prestige antigen controls are available for every corresponding Prestige Antibody and can be found in the linkage section.
Every Prestige Antibody is tested in the following ways:
- IHC tissue array of 44 normal human tissues and 20 of the most common cancer type tissues.
- Protein array of 364 human recombinant protein fragments.
Linkage
Corresponding Antigen APREST86470.
Physical form
Solution in phosphate-buffered saline, pH 7.2, containing 40% glycerol and 0.02% sodium azide
Legal Information
Prestige Antibodies is a registered trademark of Sigma-Aldrich Co. LLC
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
- UPC:
- 51202414
- Condition:
- New
- Weight:
- 1.00 Ounces
- HazmatClass:
- No
- WeightUOM:
- LB
- MPN:
- HPA011326-100UL