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DFNA5 Rabbit anti-Human, Mouse, Polyclonal, Proteintech
SDP

Catalog No. 501728469 Shop All Proteintech Group Inc Products
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50-172-8469 150 μL
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Catalog No. 50-172-8469 Supplier Proteintech Group Inc Supplier No. 130751AP150UL
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Rabbit Polyclonal Antibody

DFNA5 (deafness, autosomal domit 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 domit 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.

Specifications

Antigen DFNA5
Applications Immunohistochemistry (Paraffin), Western Blot
Classification Polyclonal
Concentration 0.3 mg/mL
Conjugate Unconjugated
Formulation PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
Gene DFNA5
Gene Accession No. O60443, Q9Z2D3
Gene Alias deafness, autosomal domit 5, DFNA5, GSDME, ICERE 1, ICERE1
Gene Symbols DFNA5
Host Species Rabbit
Immunogen DFNA5 Fusion Protein Ag3746
Purification Method Antigen Affinity Chromatography
Quantity 150 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 1687, 54722
Target Species Human, Mouse
Content And Storage -20°C
Product Type Antibody
Form Liquid
Isotype IgG
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