DHCR24 is a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. This 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 its gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells.
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Protein Aliases: 24-dehydrocholesterol reductase; 3 beta-hydroxysterol delta 24-reductase; 3-beta-hydroxysterol delta-24 reductase; 3-beta-hydroxysterol Delta-24-reductase; Delta(24)-sterol reductase; desmosterol-to-cholesterol enzyme; Diminuto/dwarf1 homolog; seladin 1; Seladin-1; selective AD indicator 1
Gene Aliases: 2310076D10Rik; 5830417J06Rik; DCE; DHCR24; KIAA0018; mKIAA0018; Nbla03646; seladin-1; SELADIN1