High affinity copper uptake protein 1

High Affinity Copper Uptake Protein 1 (also known as Ctr1) is a protein that in humans is encoded by the SLC31A1 gene. It is a key component in the copper transport system of the body, playing a crucial role in the absorption, distribution, and excretion of copper.

Function

High Affinity Copper Uptake Protein 1 is a high-affinity copper-uptake protein which mediates copper uptake in plasma. Copper is an essential trace element that is required for a variety of fundamental biological processes. The protein is a trimeric integral membrane protein that functions as a copper transporter in mammalian cells.

Structure

The structure of High Affinity Copper Uptake Protein 1 is unique. It is a homotrimer, with each monomer consisting of three transmembrane domains. The N-terminal domain is located in the extracellular space and is responsible for copper binding. The C-terminal domain is located in the cytoplasm and is involved in copper transfer to intracellular copper chaperones.

Clinical Significance

Mutations in the SLC31A1 gene can lead to disorders of copper metabolism, such as Menkes disease and Wilson's disease. These disorders are characterized by copper deficiency or copper accumulation, respectively, and can lead to severe neurological and systemic symptoms.

See Also

• Copper in health
• Menkes disease
• Wilson's disease