GJD3

GJD3 or Gap Junction Protein, Delta 3, also known as Connexin 31.9 or Cx31.9, is a protein that in humans is encoded by the GJD3 gene. It is a member of the connexin family of proteins, which play a crucial role in the formation of gap junctions.

Function[edit | edit source]

GJD3 is a protein that is a member of the connexin family. Connexins are integral membrane proteins that form gap junctions, providing a pathway for the diffusion of low molecular weight materials from cell to cell. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, smooth muscle contraction, and the propagation of action potentials in neurons.

Structure[edit | edit source]

The GJD3 protein is composed of four transmembrane domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. The extracellular loops are responsible for connexin-connexin interactions, while the cytoplasmic loop and N- and C-termini are involved in the regulation of channel gating and connexin trafficking.

Clinical significance[edit | edit source]

Mutations in the GJD3 gene have been associated with a variety of diseases, including skin diseases and hearing loss. Further research is needed to fully understand the role of GJD3 in these conditions.