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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.
Immunogen
A synthetic peptide from mouse Dfna5 deafness (non-syndromic hearing impairment protein 5 homolog) conjugated to an immunogenic carrier protein was used as the antigen.