DFNA5 (deafness, autosomal dominant 5), also known as ICERE-1, is a 496aa protein that is expressed in cochlea tissue, as well as in placenta, brain, heart, liver, lung and pancreas as two alternatively spliced isoforms, designated short and long.
Defects in the gene encoding DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5), a form of sensorineural hearing loss that results from damage to one of various structures that receive sound information in the brain.
The gene encoding DFNA5 maps to human chromosome 7, which houses over 1000 genes and comprises nearly 5% of the human genome.
Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
Applications:Suitable for use in Western Blot, Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry: 1:50-1:200Optimal 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, 0.09% sodium azide, 50% glycerol.
Specificity：Recognizes human DFNA5.
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to human DFNA5.
