DFNA5 Rabbit anti-Human, Mouse, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Catalog Number	Mfr. No.	Quantity
50-172-8469	Proteintech Group Inc 130751AP150UL	150 μL

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
• Applications: Immunohistochemistry (Paraffin), Western Blot
• Conjugate: Unconjugated
• Host Species: Rabbit
• Target Species: Human, Mouse
• Gene Accession No.: O60443, Q9Z2D3
• Gene ID (Entrez): 1687, 54722
• Immunogen: DFNA5 Fusion Protein Ag3746
• Primary or Secondary: Primary
• Content And Storage: -20°C
• Gene: DFNA5

• Concentration: 0.3 mg/mL
• Classification: Polyclonal
• Form: Liquid
• Regulatory Status: RUO
• Formulation: PBS with 50% glycerol and 0.1% sodium azide; pH 7.3
• Gene Alias: deafness, autosomal domit 5, DFNA5, GSDME, ICERE 1, ICERE1
• Gene Symbols: DFNA5
• Isotype: IgG
• Purification Method: Antigen Affinity Chromatography
• Product Type: Antibody