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DFNA5 Rabbit anti-Human, Polyclonal, Invitrogen™

Rabbit Polyclonal Antibody

Manufacturer:  Invitrogen OSD00002W

Catalog No. PIOSD00002W


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Description

Description

Reconstitute with 100 µL of distilled water.

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

Specifications

DFNA5
Polyclonal
whole serum with no preservative
O60443
Non-syndromic hearing impairment protein 5, ICERE-1
Rabbit
IgG
RUO
Antibody
Polyclonal
Human
Immunohistochemistry, Western Blot
Unconjugated
GSDME
Lyophilized
GSDME
A synthetic peptide from human DFNA5 deafness
100 μL
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Primary
1687
Documents
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