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Invitrogen™ DFNA5 Monoclonal Antibody (A1H2)
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Catalog No. PIMA537799
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PIMA537799 100 μL
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Catalog No. PIMA537799 Supplier Invitrogen™ Supplier No. MA537799
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Mouse Monoclonal Antibody

Positive controls: Hela cell lysates, HepG2 cell lysates, A431, SiHa, SH-SY5Y.

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.
TRUSTED_SUSTAINABILITY

Specifications

Antigen DFNA5
Applications Western Blot
Classification Monoclonal
Clone A1H2
Concentration 2 mg/mL
Conjugate Unconjugated
Formulation PBS with 50% glycerol, 0.2% BSA and 0.05% 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 Mouse
Immunogen Recombinant protein within Human DFNA5 aa 34-214.
Purification Method Protein G
Quantity 100 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 1687
Target Species Human
Content And Storage Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Product Type Antibody
Form Liquid
Isotype IgG1
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