Deafness, Autosomal Dominant 5 (DFNA5) antibody

Antigen: Deafness, Autosomal Dominant 5 (DFNA5)

Synonyms: ICERE-1, Fin15, Dfna5h, EG14210, 2310037D07Rik, 4932441K13Rik, fk59f08, zgc:91916, wu:fc41e05, wu:fk59f08, MGC83660

Clonality: Polyclonal

Host: Rabbit

Reactivity: Human

Application: Immunohistochemistry (IHC), Western Blotting (WB)

Catalog no.: ABIN350289

Additional Information

Alternative name: DFNA5 deafness (non-syndromic hearing impairment protein 5, ICERE-1)

UniProt: O60443

Immunogen: A synthetic peptide as a part of human DFNA5 deafness (non-syndromic hearing impairment protein 5, ICERE-1) conjugated to an immunogenic carrier protein was used as the immunogen.

Format: Lyophilized

Description: 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).

Specificity: Appears to be specific for DFNA5.

Application Details

Application Notes: IHC, WB. 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.

Purity: whole serum

Storage: 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.

Restrictions: For Research Use only

Publications

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).

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).

Hillier, Fulton, Fulton et al.: "The DNA sequence of human chromosome 7." in: Nature, Vol. 424, Issue 6945, pp. 157-64, 2003 (PubMed).