Inheritance and Genetics of Zellweger Syndrome
Zellweger Syndrome: Genetics Information
Genetics of Zellweger Syndrome:
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 animal cells, especially liver, kidney and brain cells. The function of peroxisomes is not fully understood, although the enzymes they contain carry out a number of metabolically important reactions. The PXR1 receptor is vital for the import of these enzymes into the peroxisomes: without it functioning properly, the peroxisomes can not use the enzymes to carry out their important functions, such as cellular lipid metabolism and metabolic oxidations.
(Source: Genes and Disease by the National Center for Biotechnology)
About inheritance and genetics:
Inheritance of Zellweger Syndrome refers to whether the condition is inherited
from your parents or "runs" in families.
The level of inheritance of a condition depends
on how important genetics are to the disease.
Strongly genetic diseases are usually inherited,
partially genetic diseases are sometimes inherited,
and non-genetic diseases are not inherited.
For general information, see Introduction to Genetics.