Sterol Δ24 reductase
Sterol Δ24 reductase | ||
---|---|---|
Properties of human protein | ||
Mass / length primary structure | 494 amino acids | |
Secondary to quaternary structure | single-pass membrane protein (ER, Golgi) | |
Cofactor | FAD | |
Identifier | ||
Gene name | DHCR24 | |
External IDs | ||
Enzyme classification | ||
EC, category | 1.3.1.- , oxidoreductase | |
Response type | Hydrogenation of a double bond | |
Substrate | 24-double bond sterol + NADPH / H + | |
Products | 24-single bond sterol + NADP + | |
Occurrence | ||
Parent taxon | Eukaryotes | |
Orthologue | ||
human | House mouse | |
Entrez | 1718 | 74754 |
Ensemble | ENSG00000116133 | ENSMUSG00000034926 |
UniProt | Q15392 | Q8VCH6 |
Refseq (mRNA) | NM_014762 | NM_053272 |
Refseq (protein) | NP_055577 | NP_444502 |
Gene locus | Chr 1: 54.85 - 54.89 Mb | Chr 4: 106.56 - 106.59 Mb |
PubMed search | 1718 |
74754
|
The sterol Δ24 reductase (also: 24-dehydrocholesterol reductase), the enzyme that the hydrogenation of sterols at the 24-double bond catalyzed . The reaction takes place in all eukaryotes during cholesterol biosynthesis . The enzyme is localized in the membrane of the Golgi apparatus and the endoplasmic reticulum . In humans, it is mainly produced in the brain and adrenal glands , but also in the liver , lungs , spleen , prostate and spine . Mutations in DHCR24 - gene are responsible for rare inherited disorder Desmosterolose responsible.
Catalyzed reaction
5α-Cholesta-7,24-dien-3β-ol is hydrogenated to lathosterol.
Desmosterin is hydrogenated to cholesterol.
Individual evidence
Web links
Wikibooks: Biochemistry and Pathobiochemistry: Cholesterol Biosynthesis - Learning and Teaching Materials
- D'Eustachio / reactome: Reduction of desmosterol to cholesterol
- OrphaNet: Desmosterolosis