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Diseases » Refsum Disease » Inheritance
 

Inheritance and Genetics of Refsum Disease

Refsum Disease: Genetics Information

Genetics of Refsum Disease: In 1997 the gene for Refsum disease was identified and mapped to chromosome 10. The protein product of the gene, PAHX, is an enzyme that is required for the metabolism of phytanic acid. Refsum disease patients have impaired PAHX - phytanic acid hydrolase. It is thought that Refsum disease is a peroxisomal disorder, since human PAHX contains PTS2 localization sequences, which target it to the peroxisome. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Refsum Disease 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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