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Deafness, Autosomal Dominant 5 (DFNA5) antibody

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Synonyms Dfna5h, fk59f08, zgc:91916, wu:fc41e05, wu:fk59f08, MGC83660, ICERE-1, 2310037D07Rik, 4932441K13Rik, EG14210, Fin15
(47), (14), (3), (2), (1)
(44), (6)
(4), (4), (3), (1)
Immunohistochemistry (IHC), Western Blotting (WB)
(42), (21), (10), (4), (4), (3), (2), (1), (1), (1), (1)
Pubmed 3 references available
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Quantity 100 μL
Shipping to United States ( )
Availability Will be delivered in 7 to 8 Business Days
Immunogen A synthetic peptide from human DFNA5 deafness (non-syndromic hearing impairment protein 5, ICERE-1) conjugated to an immunogenic carrier protein was used as the antigen.
Specificity Specific for DFNA5.
Purification Whole serum
Alternative Name DFNA5 (DFNA5 Antibody Abstract)
Background Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.
Tissue specificity: Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta. DISEASE: Defects in DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5). DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Also known as: Non-syndromic hearing impairment protein 5, ICERE1 (Inversely Correlated with Estrogen Receptor Expression 1).
Research Area Neurology
Application Notes A dilution of 1 : 300 to 1 : 2000 is recommended.
The optimal dilution should be determined by the end user.
Not yet tested in other applications.
Restrictions For Research Use only
Format Lyophilized
Reconstitution Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage 4 °C/-20 °C
Storage Comment Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.
Expiry Date 12 months
Background publications Hillier, Fulton, Fulton et al.: "The DNA sequence of human chromosome 7. ..." in: Nature, Vol. 424, Issue 6945, pp. 157-64, 2003 (PubMed).

Van Laer, Huizing, Verstreken et al.: "Nonsyndromic hearing impairment is associated with a mutation in DFNA5." in: Nature genetics, Vol. 20, Issue 2, pp. 194-7, 1998 (PubMed).

Thompson, Weigel: "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas." in: European journal of biochemistry / FEBS, Vol. 252, Issue 1, pp. 169-77, 1998 (PubMed).

Catalog No. ABIN350289
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