Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Mugg, A.; Legeza, B.; Tee, M.K.; Damm, I.; Long, R.K.; Miller, W.L.
    Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system (2015), J. Clin. Endocrinol. Metab., 100, 684-688.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.16 gene CYP24A1, cloned from leukocyte DNA, DNA and amino acid sequence determination and analysis, expression analysis by RT-PCR, recombinant expression of wild-type and mutant CYP24A1 cDNAs in JEG-3 cells. The mammalian two-hybrid assay system consisting of the retinoid-X receptor and vitamin D receptor in JEG-3 cells is used as a simple, sensitive, quantitative assay of enzyme activity Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.15.16 E143del naturally occuring mutation Homo sapiens
1.14.15.16 E147del naturally occuring mutation Homo sapiens
1.14.15.16 E149del naturally occuring mutation Homo sapiens
1.14.15.16 E151X naturally occuring mutation Homo sapiens
1.14.15.16 E322K naturally occuring mutation Homo sapiens
1.14.15.16 L409S naturally occuring missense mutation, found on only one allele, no other mutation is found in exons or in at least 30 bp of each intron/exon junction. ThecL409S mutant has about 32% of wild-type 24-hydroxylase activity Homo sapiens
1.14.15.16 additional information genotyping and phenotypes of diverse mutants of CYP24A1, overview Homo sapiens
1.14.15.16 R159Q naturally occuring mutation Homo sapiens
1.14.15.16 R396W naturally occuring mutation Homo sapiens
1.14.15.16 W210R naturally occuring mutation Homo sapiens
1.14.15.16 W268X naturally occuring mutation Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.14.15.16 0.0086
-
 calcitriol recombinant mutant L409S enzyme, pH and temperature not specified in the publication Homo sapiens
1.14.15.16 0.009
-
 calcitriol recombinant wild-type enzyme, pH and temperature not specified in the publication Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.14.15.16 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.15.16 calcidiol + 2 reduced adrenodoxin + 2 H+ + O2 Homo sapiens
-
 secalciferol + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 calcitetrol + 2 reduced adrenodoxin + 2 H+ + O2 Homo sapiens
-
 24-oxo-1alpha,25-dihydroxyvitamin D3 + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 calcitriol + 2 reduced adrenodoxin + 2 H+ + O2 Homo sapiens
-
 calcitetrol + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 additional information Homo sapiens CYP24A1 also catalyzes the 23-hydroxylase pathway that degrades calcidiol and calcitriol ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.15.16 Homo sapiens Q07973 gene CYP24A1
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.15.16 intestine primarily Homo sapiens
-
1.14.15.16 kidney primarily Homo sapiens
-
1.14.15.16 leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.16 calcidiol + 2 reduced adrenodoxin + 2 H+ + O2
-
 Homo sapiens secalciferol + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 calcitetrol + 2 reduced adrenodoxin + 2 H+ + O2
-
 Homo sapiens 24-oxo-1alpha,25-dihydroxyvitamin D3 + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 calcitriol + 2 reduced adrenodoxin + 2 H+ + O2
-
 Homo sapiens calcitetrol + 2 oxidized adrenodoxin + H2O
-
 ?
1.14.15.16 additional information CYP24A1 also catalyzes the 23-hydroxylase pathway that degrades calcidiol and calcitriol Homo sapiens ?
-
 ?
1.14.15.16 additional information to mediate catalysis, mitochondrial P450 enzymes, including CYP27B1 and CYP24A1, must receive electrons fromreduced nicotinamide adenine dinucleotide phosphate via ferredoxin reductase and ferredoxin. The mammalian two-hybrid assay system consisting of the retinoid-X receptor and vitamin D receptor in JEG-3 cells is used as a simple, sensitive, quantitative assay of enzyme activity Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.16 24-hydroxylase
-
 Homo sapiens
1.14.15.16 24OHase
-
 Homo sapiens
1.14.15.16 CYP24A1
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.15.16 adrenodoxin
-
 Homo sapiens
1.14.15.16 heme
-
 Homo sapiens
1.14.15.16 NADPH
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.15.16 malfunction mutations of the CYP24A1 gene encoding the 24-hydroxylase that inactivates metabolites of vitamin D can cause hypercalcemia in infants and adults, phenotypes, overview. A young adult with a CYP24A1 mutation L409S shows bilateral nephrolithiasis and hypercalcemia in the setting of excessive vitamin D intake Homo sapiens