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Diseases » Zellweger Syndrome » Inheritance

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.


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