GJB4 : gap junction protein beta 4

Description

The GJB4 (gap junction protein beta 4) is a protein-coding gene located on chromosome 1.

The GJB4 gene provides instructions for making a protein called gap junction beta 4, more commonly known as connexin 30.3. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells. Connexin 30.3 is found in several different tissues, including the outermost layer of the skin (the epidermis). This protein appears to play a role in the growth and maturation of epidermal cells.

Connexin 30.3 is a structural component of gap junctions, which are dodecameric channels that connect the cytoplasm of neighboring cells. These junctions are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions can diffuse between cells through the central pore of the gap junction.

GJB4 is also known as CX30.3, EKV, EKVP2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing