Pejvakin Products

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. MISCELLANEOUS: 'Pejvak' means 'echo' in Persian.

Bioinformatics

Uniprot	NP_001036167 Human Q0ZLH3 Human
Product By Gene ID	494513
Alternate Names	Autosomal recessive deafness type 59 protein deafness, autosomal recessive 59 pejvakin PJVK