Thermo Fisher Scientific DFNA5 homolog Polyclonal Antibody

Applications

Western Blot (WB)

• Tested Dilution: 1:300–1:2,000

Immunohistochemistry (IHC)

• Tested Dilution: 1:300–1:2,000

Miscellaneous PubMed (Misc)

• Publications: View 1 publication

Product Specifications

Product Specific Information

Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Specificity of this antibody: DFNA5h.

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 as two alternatively spliced isoforms (short and long).
Defects in the DFNA5 gene cause non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5), a form of sensorineural hearing loss.
The DFNA5 gene maps to human chromosome 7, which contains over 1,000 genes and accounts for nearly 5% of the human genome.
Mutations in chromosome 7 genes are linked to 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.