GJB2
GJB2 (gap junction protein beta 2) is a structural component of gap junctions, the channels that connect the cytoplasm of adjoining cells. It is more commonly known as connexin 26 (CX26) and is also referred to as NSRD1, DFNB1 and DFNA3. Browse Assay Genie's current range of GJB2 research reagents below, or read on for the biology behind the target.
GJB2 is a structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. Each channel forms when two hexameric hemichannels, one from each cell membrane, dock together. Small molecules and ions then diffuse from one cell to its neighbour through the central pore. Connexins can also form hexameric channels in the plasma membrane on their own, regulating passage of ions and small molecules between the cell and its environment.
The GJB2 protein belongs to the connexin family and to the beta-type (group I) subfamily; connexins are grouped into alpha, beta and gamma subfamilies. It localises to the cell membrane and to gap junctions. The mouse and rat orthologs are both named Gjb2, which allows the protein to be studied in common rodent models. The HGNC gene group for GJB2 is the gap junction proteins, and related beta connexins include GJB1, GJB3, GJB5, GJB6 and GJB7.
Gap junctions were first characterised by electron microscopy as regionally specialised structures on the plasma membranes of contacting adherent cells, and were later shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules. The gene was formerly named gap junction protein, beta 2, 26kD (connexin 26), which explains the alias CX26. Mutations in the GJB2 gene are responsible for as much as 50% of pre-lingual, recessive deafness, which is reflected in the aliases DFNB1 and DFNA3.
Mutations in the GJB2 gene account for as much as 50% of pre-lingual, recessive deafness, making it a central target in deafness genetics.
GJB2 is a structural component of gap junction channels, so it is used to study how adjoining cells connect their cytoplasm.
Connexin channels allow ions and small molecules to pass between cells, a route that can be investigated through GJB2 function.
As a beta-type connexin, GJB2 provides a reference point for comparing connexin subfamilies and hemichannel assembly.
GJB2 is a structural component of gap junctions. Two hexameric hemichannels, one from each cell membrane, dock to form a dodecameric channel joining adjoining cells. Small molecules and ions diffuse from one cell to its neighbour through the central pore.
GJB2 is the gene symbol for gap junction protein beta 2, but the protein is more commonly known as connexin 26, abbreviated CX26. The name derives from the earlier gene name, gap junction protein, beta 2, 26kD. Other aliases are NSRD1, DFNB1 and DFNA3.
Mutations in GJB2 are responsible for as much as 50% of pre-lingual, recessive deafness. Mouse and rat both have an ortholog named Gjb2. Please check the datasheet of any product for its validated reactivity.
Other beta-type gap junction proteins and connexin family members with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P29033; product specifications from Assay Genie datasheets.