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: Mouse (Murine)

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

Catalog no.: ABIN350291

Additional Information

Alternative name: Dfna5h deafness-2 (non-syndromic hearing impairment protein 5 homolog)

Swiss-Prot: Q9Z2D3

Immunogen: A synthetic peptide as a internal part of mouse Dfna5h deafness (non-syndromic hearing impairment protein 5 homolog) conjugated to immunogenic carrier protein was used as the immunogen.

Format: Lyophilized

Description: 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 homolog, autosomal dominant 5 homolog, Dfna5, Dfna5h, ICERE1, Fin15, 2310037D07Rik, 4932441K13Rik.

Specificity: Appears to be specific for DFNA5h.

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

Publications: 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).

Carninci, Kasukawa, Katayama et al.: "The transcriptional landscape of the mammalian genome." in: Science (New York, N.Y.), Vol. 309, Issue 5740, pp. 1559-63, 2005 (PubMed).

Masuda, Futamura, Kamino et al.: "The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage." in: Journal of human genetics, Vol. 51, Issue 8, pp. 652-64, 2006 (PubMed).