Entrez gene ID | | 1718 |
Official gene symbol | | DHCR24 |
Full name | | 24-dehydrocholesterol reductase |
Aliases | | ,DCE,KIAA0018,Nbla03646,SELADIN1,seladin-1, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1p33-p31.1 |
Gene position | | 55352921 - 55315300 Map Viewer |
Gene orientation | | minus |
Gene size | | 37622 bp |
Gene sequence |
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OMIM ID | | 606418 |