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Immunogen Sequence: KEGTHIRVNL LNHNIPKGPC ILCGMGNFKR ETVYGCFQCS VDGQKYVRLH AVPCFDIWHK RMK
Essential in the activity of auditory pathway neurons. 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. 'Pejvak' means 'echo' in Persian.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Autosomal recessive deafness type 59 protein; DFNB59 deafness; Pejvakin
基因别名: DFNB59; PJVK
UniProt ID: (Human) Q0ZLH3
Entrez Gene ID: (Human) 494513