Homozygous or compound heterozygous variants in the CYP27A1 gene are responsible for cerebrotendinous xanthomatosis (CTX; OMIM 213700), a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts (Gallus et al., 2006). Review of a retrospective patient file of 77 genetically confirmed Dutch CTS patients determined that 10 patients (13%; nine pediatric and one adult) had a diagnosis of ASD (Stelten et al., 2017); the authors suggested that ASD was a possibly underestimated frequent feature in CTX patients.
Molecular Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
