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Pathway Description
Cerebrotendinous Xanthomatosis (CTX)
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-11-24
Cerebrotendinous Xanthomatosis, also called CTX, is a rare inborn error of metabolism (IEM) which results from a genetic mutation. More specifically, it is the result of a mutated CYP27A1 gene. This said gene is responsible for encoding sterol 27-hydroxylase. The importance of this enzyme if the following, the said enzyme is responsible for the catalysis during the oxidation of several compounds. In particular, the said enzyme interacts with sterol intermediates, and 7-alpha,12-alpha-triol, among others. CTX is rare and can be thought of as an inherited lipid-storage disease. It causes the widespread deposition of two main compounds (cholesterol and cholestanol) throughout essentially every single tissue in the body. Including, the brain and lungs, to the detriment of the affected. Symptoms of CTX are neurological dysfunction, premature atherosclerosis, and cataracts.
References
Cerebrotendinous Xanthomatosis (CTX) References
[OMIM: Entry 213700](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213700)
[Uniprot: Q02318](http://www.uniprot.org/uniprot/Q02318)
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Pubmed: 25424010
Bile Acid Biosynthesis References
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Pubmed: 8547180
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