DFNA5 Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Supplier:  Proteintech Group Inc 130751AP150UL

Catalog No. 50-172-8469

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

• Antigen: DFNA5
• Classification: Polyclonal
• Conjugate: Unconjugated
• Gene: DFNA5
• Gene Alias: deafness, autosomal domit 5, DFNA5, GSDME, ICERE 1, ICERE1
• Host Species: Rabbit
• Purification Method: Antigen Affinity Chromatography
• Regulatory Status: RUO
• Gene ID (Entrez): 1687, 54722
• Content And Storage: -20°C
• Form: Liquid

• Applications: Immunohistochemistry (Paraffin), Western Blot
• Concentration: 0.3 mg/mL
• Formulation: PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
• Gene Accession No.: O60443, Q9Z2D3
• Gene Symbols: DFNA5
• Immunogen: DFNA5 Fusion Protein Ag3746
• Quantity: 150 μL
• Primary or Secondary: Primary
• Target Species: Human, Mouse
• Product Type: Antibody
• Isotype: IgG