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Literature summary extracted from

  • Keavney, B.; Mayosi, B.; Gaukrodger, N.; Imrie, H.; Baker, M.; Fraser, R.; Ingram, M.; Watkins, H.; Farrall, M.; Davies, E.; Connell, J.
    Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion (2005), J. Clin. Endocrinol. Metab., 90, 1072-1077.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.4 gene CYP11B1, DNA and amino acid sequence determination and analysis, localization on chromosome 8 adjacent to gene CYP11B2, genotyping and determination of polymorphisms in 1428 samples of Caucasian families, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.15.4 additional information genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor 11-deoxycortisol urinary metabolite excretion, genotyping, linkages of polymorphisms in CYP11B1, at exon1, intron 3, and exon 8, and CYP11B2, phenotypes, overview Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2 Homo sapiens
-
 cortisol + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2 Homo sapiens
-
 aldosterone + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 additional information Homo sapiens genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor 11-deoxycortisol urinary metabolite excretion, overview ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.15.4 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.15.4 adrenal gland
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.4 11-deoxycortisol + NADPH + O2
-
 Homo sapiens cortisol + NADP+ + H2O
-
 ?
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2
-
 Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 18-hydroxycorticosterone + reduced adrenal ferredoxin + O2
-
 Homo sapiens aldosterone + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 additional information genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor 11-deoxycortisol urinary metabolite excretion, overview Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.4 11-beta hydroxylase
-
 Homo sapiens
1.14.15.4 Aldosterone synthase
-
 Homo sapiens
1.14.15.4 CYP11B2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.15.4 NADPH
-
 Homo sapiens
1.14.15.4 reduced adrenal ferredoxin
-
 Homo sapiens