HPA011326
Anti-DFNA5 antibody produced in rabbit
Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution
Synonym(s):
Anti-ICERE-1, Anti-Inversely correlated with estrogen receptor expression 1, Anti-Non-syndromic hearing impairment protein 5
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About This Item
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biological source
rabbit
Quality Level
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
product line
Prestige Antibodies® Powered by Atlas Antibodies
form
buffered aqueous glycerol solution
species reactivity
human
enhanced validation
RNAi knockdown
Learn more about Antibody Enhanced Validation
technique(s)
immunoblotting: 0.04-0.4 μg/mL
immunofluorescence: 0.25-2 μg/mL
immunohistochemistry: 1:20-1:50
immunogen sequence
VLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSV
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... DFNA5(1687)
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:
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 Merck KGaA, Darmstadt, Germany
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.
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Cong-Jun Wang et al.
Molecular biology reports, 40(12), 6525-6531 (2013-10-25)
Hepatocellular carcinoma is a primary malignancy of hepatocytes which accounts for 80 % of all primary liver cancers. DFNA5 has been identified as a tumor suppressor gene with an important role in several frequent forms of cancers, while little is known
Ayako Nishio et al.
Annals of human genetics, 78(2), 83-91 (2014-02-11)
Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL). To date, four different mutations in DFNA5 have been reported to cause hearing loss. A 3 bp deletion mutation (c.991-15_991-13del) was identified in Chinese and Korean families with
Kazuaki Yokomizo et al.
Anticancer research, 32(4), 1319-1322 (2012-04-12)
Recently, the human deafness, autosomal dominant 5 gene, DFNA5, has frequently been detected in cancer tissues. The methylation status of the DFNA5 gene in colorectal cancer was examined and was compared to the clinocopathological findings. Eighty-five tumor samples and corresponding
Makoto Hosoya et al.
Scientific reports, 6, 22250-22250 (2016-02-27)
Hearing impairment is the most frequent sensory deficit in humans. Deafness genes, which harbor pathogenic mutations that have been identified in families with hereditary hearing loss, are commonly expressed in the auditory end organ or the cochlea and may contribute
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