The gene for Wilson's disease is ATP7B.
Wilson's disease is a genetic disorder resulting from mutations in the ATP7B gene. This gene provides the instructions for creating a protein called copper-transporting ATPase 2. This protein is crucial for transporting copper out of liver cells and into bile for elimination from the body, or for incorporating copper into ceruloplasmin, a protein that carries copper in the bloodstream.
Function of ATP7B
The copper-transporting ATPase 2 protein, produced by the ATP7B gene, plays a critical role in copper metabolism:
- Copper Excretion: It helps remove excess copper from the liver via bile.
- Ceruloplasmin Production: It assists in incorporating copper into ceruloplasmin, which is essential for proper copper distribution throughout the body.
Impact of ATP7B Mutations
Mutations in the ATP7B gene disrupt the protein's function, leading to:
- Copper Accumulation: Copper builds up in the liver, brain, and other organs.
- Cell Damage: This accumulation can cause significant cellular damage and organ dysfunction.
Clinical Manifestations
The consequences of this genetic defect manifest in a variety of symptoms, including:
- Liver Disease: Ranging from hepatitis to cirrhosis.
- Neurological Problems: Including tremors, difficulty speaking, and psychiatric symptoms.
- Kayser-Fleischer Rings: Distinct copper deposits in the cornea of the eye.
