GJD4

GJD4 or Gap Junction Protein, Delta 4, also known as Connexin 40.1 is a protein that in humans is encoded by the GJD4 gene. It is a member of the connexin family of proteins, which play a crucial role in the formation of gap junctions.

Function

GJD4 is a protein that is a member of the connexin family. Connexins are integral membrane proteins that form gap junction channels, allowing ions and small molecules to pass between adjacent cells. The GJD4 protein is expressed in various tissues, including the heart and brain, and is involved in the regulation of cell growth and differentiation.

Structure

The GJD4 protein is composed of four transmembrane domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. The protein forms a hexamer (connexon) in the plasma membrane, which can dock with a connexon in an adjacent cell to form a gap junction channel.

Clinical Significance

Mutations in the GJD4 gene have been associated with various diseases, including cardiac arrhythmias and neurological disorders. Further research is needed to fully understand the role of GJD4 in human health and disease.

See Also

• Connexin
• Gap junction