ATP7B : ATPase copper transporting beta
Copper Metabolism and the ATP7B Gene
Description:
The ATP7B gene holds the blueprint for producing copper-transporting ATPase 2, an essential protein that plays a crucial role in copper metabolism. This protein belongs to the P-type ATPase family, responsible for transporting metals into and out of cells using adenosine triphosphate (ATP) energy. Copper-transporting ATPase 2 is mainly found in the liver, with trace amounts in the kidneys and brain.
Function:
The primary function of copper-transporting ATPase 2 is to facilitate the transport of copper from the liver to other body parts. Copper is an essential cofactor for various enzymes, including those involved in antioxidant defense and energy production. Additionally, this protein is responsible for removing excess copper from the body, preventing potential toxicity.
Location:
Within liver cells, copper-transporting ATPase 2 resides in the Golgi apparatus, a cellular compartment responsible for modifying and sorting newly synthesized proteins. Here, it provides copper to ceruloplasmin, a protein that transports copper through the bloodstream to other tissues.
Regulation:
When copper levels in the liver are elevated, copper-transporting ATPase 2 shifts from the Golgi apparatus to vesicles, which are small sacs that transport substances for elimination. This process ensures that excess copper is excreted through bile, a substance produced by the liver that aids in digestion and waste removal.
Associated Diseases:
Mutations in the ATP7B gene can lead to several copper metabolism disorders, including:
- Wilson‘s disease: An inherited disorder characterized by excessive copper accumulation in the liver, brain, and other organs.
- Indian childhood cirrhosis: A severe liver disease affecting young children, caused by a specific mutation in the ATP7B gene.
Did you Know ?
According to the National Institute of Health, Wilson‘s disease affects approximately 1 in 30,000 individuals worldwide.
