GJD3
Description
The GJD3 (gap junction protein delta 3) is a protein-coding gene located on chromosome 17.
The GJD3 gene is part of the connexin family, which are essential for gap junction formation. Six connexin monomers combine to form a hemichannel, or connexon, on the cell surface. These connexons can interact with each other from neighboring cells to create channels that connect the cytoplasm of the two cells.
Gap junctions are formed by clusters of closely packed pairs of transmembrane channels called connexons. These connexons allow the diffusion of low molecular weight materials between adjacent cells.
GJD3 is also known as CX31.9, Cx30.2, GJA11, GJC1.
Associated Diseases
- familial atrial fibrillation
- Brugada syndrome
- long QT syndrome 11
- familial sick sinus syndrome
- Brugada syndrome 9
- long QT syndrome 10
- Brugada syndrome 3
- sinoatrial node dysfunction and deafness
- long QT syndrome 9
- long QT syndrome 14
