Zellweger Syndrome
Zellweger Syndrome is a rare hereditary disorder affecting infants, and usually results in death. This disease is usually fatal in the early ages,so prenatal diagnosis of the disease is important.
- The PXR1 gene has been mapped to chromosome 12,mutations in this gene cause Zellweger Syndrome.The PXR1 gene product is a receptor found on the surface of peroxisomes-microbodies found in animals cells, especially liver, kidney, and brain cells.
- There is a yeast homolog to human PXR1,which should allow powerful molecular events that occur in disease states.