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Description
Function: Essential in the activity of auditory pathway neurons. DISEASE: Defects in PJVK are the cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). DFNB59 is a form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Also known as: Autosomal recessive deafness type 59 protein, PJVK, DFNB59, DFNB59 deafness, autosomal recessive 59.
Immunogen
A synthetic peptide from aa region 180-220 of human Pejvakin conjugated to an immunogenic carrier protein was used as the antigen.