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DHCR24 / Seladin-1 is 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.
Gene Name: | 24-dehydrocholesterol reductase |
Synonyms: | DHCR24, DCE, Diminuto/dwarf1 homolog, KIAA0018, Nbla03646, Seladin 1, Seladin-1, SELADIN1, Selective AD indicator 1, Delta(24)-sterol reductase |
Target Sequences: | NM_014762 NP_055577.1 Q15392 |
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