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Invitrogen™ DFNA5 Recombinant Rabbit Monoclonal Antibody (K01_1Q36)

Product Code. 30828801
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30828801 50 μL
30826366 100 μL
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Product Code. 30828801 Supplier Invitrogen™ Supplier No. MA565178

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Rabbit Recombinant Monoclonal Antibody

DFNA5 Recombinant Monoclonal Antibody for Western Blot

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.
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Specifications

Antigen DFNA5
Applications Western Blot
Classification Recombinant Monoclonal
Clone K01_1Q36
Concentration 1 mg/mL
Conjugate Unconjugated
Formulation 50mM tris glycine with 40% glycerol, 0.05% BSA, 150mM NaCl and 0.01% sodium azide; pH 7.4
Gene Gsdme
Gene Accession No. O60443
Gene Alias 2310037D07Rik; 4932441K13Rik; deafness, autosomal dominant 5; deafness, autosomal dominant 5 (human); deafness, autosomal dominant 5 homolog; Dfna5; DFNA5, deafness associated tumor suppressor; Dfna5h; EG14210; Fin15; Gasdermin-E; Gasdermin-E, C-terminal; Gasdermin-E, N-terminal; GSDME; GSDME-CT; GSDME-NT; ICERE1; ICERE-1; Inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; non-syndromic hearing impairment protein 5; Non-syndromic hearing impairment protein 5 homolog
Gene Symbols Gsdme
Host Species Rabbit
Immunogen Recombinant protein of human DFNA5/GSDME.
Purification Method Protein A/G
Quantity 50 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 1687
Target Species Human
Content And Storage Maintain refrigerated at 2-8°C for up to 1 month. For long term storage store at -20°C
Product Type Antibody
Form Liquid
Isotype IgG
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