| Protein Name | 24-dehydrocholesterol reductase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1718 |
| Gene Symbol | DHCR24 |
| UniProt | Q15392 (DHC24_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
134
Total Number of Articles : 166 |
Description |
24-dehydrocholesterol reductase |
| 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, Jul 2008] |
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| Properties | |