What does ATP7B gene do?
The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP).
Is ATP7B an enzyme?
Wilson disease protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene….Wilson disease protein.
| ATP7B | ||
|---|---|---|
| showRNA expression pattern | ||
| showGene ontology | ||
| Orthologs | ||
| Species | Human | Mouse |
What causes Wilson’s disease?
What causes Wilson disease? Mutations link of a gene called ATP7B cause Wilson disease. These gene mutations prevent the body from removing extra copper. Normally, the liver releases extra copper into bile.
What is the function of the ATP7B gene?
The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule adenosine triphosphate (ATP).
How are mutations in ATP7B related to Wilson disease?
Mutations of this gene are associated with Wilson Disease, which occurs when excess copper is kept in the body and can damage organs ( R ). Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile.
How does g85v mutation affect ATP7B trafficking?
The structure reveals the disruptive mechanism of G85V mutation, one of the very few Singular Wilson disease causing missense mutations in the MBD1-4 region of ATP7B. The protein misfolding will disrupt MBD1-3 interactions, and interfere with proper ATP7B trafficking and activity which, in turn may be followed by protein degradation.
What happens when there is a shortage of ATP7B?
With a shortage of functional protein, removal of excess copper from the body is impaired. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2.