Abcam, ab152424, Recombinant Human GJB2 protein

Size: 10µg
Recombinant Human GJB2 protein is a Human Full Length protein, in the 1 to 226 aa range, expressed in Wheat germ, suitable for SDS-PAGE, ELISA, WB.
Key facts
Expression system:Wheat germ,
Tags:GST tag N-Terminus,
Applications:ELISA, WB, SDS-PAGESee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:P29033,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.31% Glutathione

Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

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