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DFNA5 Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Brand:  Proteintech 13075-1-AP-20UL

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Product Code. 16861114

  • £135.00 / 20µL

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Description

Description

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

Specifications

DFNA5
Polyclonal
Unconjugated
DFNA5
deafness, autosomal domit 5, DFNA5, GSDME, ICERE 1, ICERE1
Rabbit
Antigen Affinity Chromatography
RUO
1687, 54722
-20°C
Liquid
Immunohistochemistry (Paraffin), Western Blot
0.3 mg/mL
PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
O60443, Q9Z2D3
DFNA5
DFNA5 Fusion Protein Ag3746
20 μL
Primary
Mouse, Human
Antibody
IgG
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