This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008] (from
Alzheimer’s Disease Neuroimaging Initiative et al., Indianapolis, United States. In Brain Imaging Behav, 2012
Level of brain amyloid deposition on [(11)C]PiB PET was associated with rs7551288, an intronic SNP in DHCR24, in 103 participants. The minor allele was associated with lower PiB uptake with non-carriers showing higher PiB uptake in frontal regions.