GJA10

GJA10, also known as Connexin 62 or Cx62, is a protein that in humans is encoded by the GJA10 gene. It is a member of the gap junction protein family. Gap junction proteins, also known as connexins, are a group of transmembrane proteins that form intercellular channels providing a direct route for the exchange of ions and small molecules between adjacent cells.

Function[edit | edit source]

GJA10 is involved in the formation of gap junctions in vertebrates. These gap junctions are essential for cell-to-cell communication, which is crucial for the function of many physiological processes, such as the coordinated contraction of heart muscle, the regulation of neuronal excitability, and the maintenance of tissue homeostasis.

Structure[edit | edit source]

The GJA10 protein has four transmembrane domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. The extracellular loops are responsible for docking between two connexins from adjacent cells to form a gap junction channel.

Clinical Significance[edit | edit source]

Mutations in the GJA10 gene have been associated with a variety of diseases, including cataracts, deafness, and skin disorders. Further research is needed to fully understand the role of GJA10 in these conditions.