Pejvakin (PJVK)

Pejvakin (PJVK) is a vertebrate-specific, 352-amino acid protein and a distantly related member of the gasdermin family, characterized by a conserved N-terminal gasdermin domain. It plays a critical role in the auditory system in two main contexts: maintenance of hair cell stereocilia architecture and neural auditory signal transmission. Pejvakin localizes to the rootlets of stereocilia in hair cells, where it interacts with TRIOBP and is essential for maintaining the structural integrity and mechanosensory function of the hair bundle. It is also required for a specialized autophagy pathway (pexophagy), promoting peroxisome proliferation to protect auditory neurons and hair cells against oxidative damage induced by noise exposure. Mutations in PJVK cause autosomal recessive non-syndromic hearing loss DFNB59, with phenotypes ranging from auditory neuropathy to cochlear deafness. Pejvakin's critical role in auditory function makes it a key diagnostic biomarker and a potential, though challenging, therapeutic target[1][2][3][4].

Other names

PejvakinPJVKDFNB59Autosomal recessive deafness type 59 proteinautosomal recessive deafness type 59 protein