Pejvakin

Pejvakin is a protein that in humans is encoded by the PJVK gene. It is a critical component of the auditory system, and mutations in this gene can lead to hearing loss.

Function

Pejvakin is a cytoplasmic protein that is expressed in the inner ear. It plays a crucial role in the functioning of the auditory system. The protein is involved in the regulation of reactive oxygen species (ROS) levels in the inner ear, which is essential for the maintenance of normal hearing.

Clinical significance

Mutations in the PJVK gene can lead to autosomal recessive non-syndromic hearing loss. This is a form of hearing loss that is not associated with other signs and symptoms. In particular, mutations in the PJVK gene can cause DFNB59 hearing loss, a condition characterized by moderate to profound, prelingual, non-progressive sensorineural hearing loss.

Research

Research into the role of pejvakin in the auditory system has provided valuable insights into the mechanisms of hearing loss. Studies have shown that mutations in the PJVK gene can lead to a disruption in the regulation of ROS levels in the inner ear, leading to damage to the auditory system and subsequent hearing loss.

See also

• DFNB59
• Pjvk gene
• Hearing loss
• Reactive oxygen species