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DFNA5 Rabbit anti-Human, Polyclonal, Invitrogen™
Rabbit Polyclonal Antibody
Supplier: Thermo Scientific PA572478
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
DFNA5 | |
Polyclonal | |
Unconjugated | |
DFNA5 | |
Non-syndromic hearing impairment protein 5; Inversely correlated with estrogen receptor expression 1; ICERE-1; DFNA5; ICERE1 | |
Rabbit | |
selective precipitation | |
RUO | |
1687 | |
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles. | |
Liquid |
Flow Cytometry, Immunohistochemistry (Paraffin), Western Blot | |
5.78 mg/mL | |
PBS with 0.09% sodium azide | |
O60443 | |
DFNA5 | |
KLH conjugated synthetic peptide between 59-87 amino acids from the N-terminal region of human DFNA5 | |
400 μL | |
Primary | |
Human | |
Antibody | |
IgG |
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