Thermo Fisher Scientific DFNA5 Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Product Specific Information

• Glycerol (1:1) may be added for additional stability.
• Reconstitute in 100 µl sterile water.
• Centrifuge to remove any insoluble material.

Target Information

DFNA5 (deafness, autosomal dominant 5), also known as ICERE-1, is a 496 amino acid protein expressed in cochlea tissue, as well as in placenta, brain, heart, liver, lung, and pancreas. It exists as two alternatively spliced isoforms, designated short and long.
Defects in the DFNA5 gene cause non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5), a form of hearing loss resulting from damage to auditory structures in the brain.
The DFNA5 gene maps to human chromosome 7, which contains over 1,000 genes and represents nearly 5% of the human genome. Mutations in genes on chromosome 7 are associated with several disorders, including Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia, and Shwachman-Diamond syndrome.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.