|Western Blot (WB)||1:500-1:1000|
|Tested Species reactivity||Human, Mouse, Rat|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Synthetic peptide corresponding to the 264-309 of human DFNA5|
|Purification||Antigen affinity chromatography|
|Storage buffer||PBS with 50% glycerol|
|Contains||0.1% sodium azide|
|Storage conditions||Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.|
This antibody detects endogenous protein at a molecular weight of 54 kDa.
Purity is >95% by SDS-PAGE.
DFNA5 (deafness, autosomal dominant 5), also known as ICERE-1, is a 496 amino acid 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 1,000 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: deafness, autosomal dominant 5; deafness, autosomal dominant 5 homolog; ICERE-1; ICERE1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5; Non-syndromic hearing impairment protein 5 homolog; nonsyndromic hearing impairment protein
Gene Aliases: 2310037D07Rik; 4932441K13Rik; DFNA5; Dfna5h; EG14210; Fin15; ICERE-1; ICERE1
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