Recombinant Human GJB2 protein

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

GJB2 also known as Connexin 26 is a protein that forms part of gap junctions and is composed of a unit mass of about 26 kDa. This protein is located mainly in the cochlea within the inner ear but also shows expression in non-sensory cells of the skin kidney liver and lungs. GJB2 consists of four transmembrane domains two extracellular loops and a cytoplasmic loop. Each unit of Connexin 26 requires a total of six molecules to assemble into a structure known as a connexon which are essential for cell-to-cell communication.

Biological function summary

GJB2 forms channels allowing ions and small molecules to pass between cells enabling direct cell communication. This protein plays a critical role in maintaining homeostasis within tissues by mediating the transfer of signaling molecules like calcium ions and cyclic AMP. GJB2 works together with other connexins to form gap junction channels contributing to the regulation within complex tissue structures. Its role is significant in the auditory system where it facilitates the recycling of potassium ions necessary for converting sound waves into electrical signals.

Pathways

GJB2 interacts prominently in pathways related to cellular communication and signal transduction. The gap junction network that GJB2 participates in is important for hearing involving a cascade of intercellular ionic and metabolic cooperation. Within these pathways GJB2 is functionally related to other connexin proteins like Connexin 30 which often co-localizes in the cochlea to ensure auditory function. This interconnectedness helps maintain the proper function of various epithelial tissues involved in different physiological processes.

Associated diseases and disorders

Mutations in GJB2 are a common cause of non-syndromic hearing loss particularly autosomal recessive deafness. Its dysfunction can lead to improper potassium ion recycling in the cochlea leading to sensory neural hearing loss. Another condition linked to alterations in GJB2 is Keratitis-ichthyosis-deafness (KID) syndrome a rare disorder affecting the skin eyes and hearing. Mutations that disrupt GJB2 function often correlate with changes in Connexin 30 altering the balance of gap junction communication and resulting in these clinical manifestations.