SLC19A2

SLC19A2 is a gene that encodes a protein involved in the transport of copper across cellular membranes. It is a member of the solute carrier family 19, which includes proteins that facilitate the movement of ions and small molecules across cell membranes. The SLC19A2 protein is primarily expressed in the liver, where it plays a crucial role in copper homeostasis. Copper is an essential trace element that is required for various biological processes, including the production of red blood cells and the functioning of enzymes involved in energy metabolism. The SLC19A2 protein transports copper from the bloodstream into the liver, where it is stored in the form of metallothionein, a protein that binds to copper ions. This process helps to regulate the levels of copper in the body and prevent copper toxicity, which can occur if too much copper accumulates in the body. Mutations in the SLC19A2 gene have been associated with copper accumulation disorders, such as Wilson's disease, a genetic disorder characterized by the accumulation of copper in the liver, brain, and other organs. In Wilson's disease, the SLC19A2 protein is often defective or absent, leading to impaired copper transport and the subsequent accumulation of copper in the body. Treatment for Wilson's disease typically involves the use of chelating agents, such as penicillamine or trientine, which help to remove excess copper from the body. In summary, SLC19A2 is a gene that encodes a protein involved in the transport of copper across cellular membranes. It plays a crucial role in copper homeostasis and is associated with copper accumulation disorders, such as Wilson's disease.