DFNA5 pAb

DFNA5 (deafness, autosomal dominant 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 dominant 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.

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SPECIFICATIONS

Catalog Number

BS5697

Size

100ug/100ul

Applications

WB

Hosts

Rabbit

Reactivities

Hum, Mouse, Rat

Form

liquid

Purity

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).

Antigen

Synthetic peptide, corresponding to the 264-309 of Human DFNA5.

Species

DFNA5 pAb detects endogenous levels of DFNA5 protein.

Dilutions

WB: 1:500~1:1000

Swiss Prot

O60443

Storage Temp

Store at 4 degrees C short term. Aliquot and store at -20 degrees C long term. Avoid freeze-thaw cycles.

Concentration

1ug/ul