PJVK
Description
The PJVK (pejvakin) is a protein-coding gene located on chromosome 2.
Pejvakin is a protein found in humans, encoded by the PJVK gene. It belongs to the gasdermin family, unique to vertebrates. Pejvakin is essential for the proper functioning of auditory pathway neurons. Mutations in the PJVK gene are linked to non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59).
PJVK is a peroxisome-associated protein crucial for safeguarding auditory hair cells from noise-induced damage. It achieves this by regulating the proliferation of peroxisomes in these cells and neurons, as well as facilitating the autophagic degradation of damaged peroxisomes (pexophagy). Excessive noise exposure leads to increased reactive oxygen species (ROS) levels, causing oxidative damage to auditory hair cells and ultimately hearing loss. PJVK functions as a ROS sensor, recruiting the autophagy machinery to initiate pexophagy of peroxisomes affected by oxidative stress. Beyond its role in pexophagy, PJVK is also essential for promoting peroxisome proliferation in response to excessive sound stimulation.
PJVK is also known as DFNB59.
