1.3.1.21: 7-dehydrocholesterol reductase
This is an abbreviated version!
For detailed information about 7-dehydrocholesterol reductase, go to the full flat file.
Word Map on EC 1.3.1.21
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1.3.1.21
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smith-lemli-opitz
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malformation
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cyp2r1
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anomaly
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25-hydroxyvitamin
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syndactyly
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d-related
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desmosterol
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8-dehydrocholesterol
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dhcr24
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genitalia
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oxysterols
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holoprosencephaly
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rsh
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ecdysteroids
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cholesterogenic
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medicine
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diagnostics
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25-hydroxylase
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trazodone
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aripiprazole
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ebp
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hmgcs1
- 1.3.1.21
-
smith-lemli-opitz
- malformation
- cyp2r1
- anomaly
-
25-hydroxyvitamin
-
syndactyly
-
d-related
- desmosterol
- 8-dehydrocholesterol
- dhcr24
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genitalia
- oxysterols
- holoprosencephaly
- rsh
- ecdysteroids
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cholesterogenic
- medicine
- diagnostics
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25-hydroxylase
- trazodone
- aripiprazole
- ebp
- hmgcs1
Reaction
Synonyms
3-hydroxysterol DELTA7-reductase, 3beta-hydroxysterol DELTA7-reductase, 3beta-hydroxysterol-DELTA7-reductase, 7-dehydrocholesterol DELTA7 reductase, 7-dehydrocholesterol DELTA7-reductase, 7-DHC reductase, 7-DHCR, Csa7G447780, DAF-36, DELTA5,7-sterol DELTA7-reductase, Des7, Dhcr7, Dhcr7-AS-1, Dhcr7-AS-2, Dhcr7-AS-4, Dwarf5 protein, DWF5, Neverland, Nvd, reductase, 7-dehydrocholesterol, Sterol delta-7-reductase, sterol DELTA7 reductase, sterol DELTA7-reductase
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General Information
General Information on EC 1.3.1.21 - 7-dehydrocholesterol reductase
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malfunction
metabolism
physiological function
additional information
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enzyme absence leads to the devastating fetal developmental disorder Smith-Lemli-Opitz syndrome
malfunction
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mutations in the enzyme gene lead to the developmental disease Smith-Lemli-Opitz syndrome which can also result in fetal mortality
malfunction
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the Lemli-Opitz syndrome results from mutations in the 7-dehydrocholesterol reductase gene
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the enzyme catalyzes the final step of cholesterol synthesis via the Kandutsch-Russell pathway, and is crucial in maintaining cellular cholesterol levels
metabolism
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the enzyme exerts complex biological effects, involved in both cholesterol and vitamin D production
metabolism
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the enzyme is important for both cholesterol and vitamin D synthesis
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Dhcr7 inhibits hedgehog signaling in a Smo-independent manner, overview
physiological function
a knock out strain shows no differences in growth rates nor cell shape, neither in the presence nor in the absence of added sterols.Sterols found in wild-type are 83.44% cholesta-5,7,22-trien-3beta-ol as the major derivative, besides cholesterol itself, 0.55% cholesta-5,7-dien-3beta-ol and 3.84% cholesta-5,22-dien-3beta-ol. In contrast, in the KODES7 cell line, the only conversion product recovered is 92.76% 22-dehydrocholesterol
physiological function
by controlling dafachronic acid production, enzyme DAF-36 regulates activities of nuclear receptor DAF-12 for reproductive development and longevity. Mutants deficient for the enzyme lack 7-dehydrocholesterol, revealing a 6.5fold decrease relative to wild-type, and accumulate the putative precursor, cholesterol, by 3fold. The ligand of nuclear receptor DAF-12, DELTA7-dafachronic acid, is also undetectable in the mutants, while DELTA4-dafachronic acid is below the detection limit in both wild-type and mutant
physiological function
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construction of an adeno-associated virus vector containing the DHCR7 gene and infusion of this vector into mice deficient for the enzyme leads to identification of the introduced DHCR7 gene in liver, expression of mRNA production of a functional enzyme. Evidence of functionality comes from the ability to partially normalize the serum ratio of 7-dehydrocholesterol/cholesterol in treated animals, apparently by increasing cholesterol production with concomitant decrease in the 7-dehydrocholesterol precursor. By five weeks after treatment the mean ratio for 7 animals has fallen to 0.05 while the ratio for untreated littermate controls has risen to 0.14
physiological function
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microsomes from the livers of mice in which hepatic cytochrome P450 reductase expression is extinguished during maturation contain negligible levels of NADPH-cytochrome P450 reductase but have 2.5fold greater DHCR7 activity than microsomes from wild-type mice. DHCR7 protein levels are elevated twofold in NADPH-cytochrome P450 reductase-null microsomes. Addition of NADPH-cytochrome P450 reductase to these microsomes provides no stimulation of DHCR7 activity
physiological function
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quantitative proteomics analysis of Smith-Lemli-Opitz syndrome and lathosterolosis mouse brain tissue shows that multiple biological pathways are affected affected in Dhcr7-deficient and lathosterol 5-desaturase-deficient E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Deficiency leads to increased expression of isoprenoid and cholesterol synthetic enzymes, possibly due to the altered posttranslational modification of Rab7, a small GTPase
physiological function
wild-type Bombyx mori enzyme rescues the lethality of Drosophila melanogaster animals treated with RNAi against the nvd gene, whereas Bombyx mori mutants H190A and H282A do not
physiological function
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the terminal enzyme of cholesterol synthesis is essential for embryonic development
physiological function
gene mutation leads to a compact plant architecture (cpa) mutant that displays an extremely dwarf phenotype with shortened internode and petiole, darkened and wrinkled leaf
physiological function
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interaction with endothelial cells for 48 h down-regulates expression of genes in vascular smooth muscle cells controlling rate-limiting steps of the cholesterol biosynthesis such as HMG-CoA reductase, HMG-CoA-synthase-1, 24-dehydrocholesterol reductase and DHCR7. A decrease in the abundance of 24-dehydrocholesterol reductase and lower cholesterol levels in vascular smooth muscle cells cocultured with endothelial cells is observed
physiological function
upon DNA and RNA viral infection, macrophages reduce 7-dehydrocholesterol reductase (DHCR7) expression. DHCR7 deficiency or treatment with 7-dehydrocholesterol (7-DHC) can specifically promote phosphorylation of IRF3 and enhance type I interferon production in macrophages. Viral infection or 7-DHC treatment enhances AKT3 expression and activation. Deletion of DHCR7 and the DHCR7 inhibitors including AY9944 and the chemotherapy drug tamoxifen promote clearance of Zika virus and multiple viruses in vitro or in vivo
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dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol
additional information
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dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol
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