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Literature summary extracted from

  • Krone, N.; Riepe, F.G.; Goetze, D.; Korsch, E.; Rister, M.; Commentz, J.; Partsch, C.J.; Groetzinger, J.; Peter, M.; Sippell, W.G.
    Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene (2005), J. Clin. Endocrinol. Metab., 90, 3724-3730.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.4 gene CYP11B1, located on chromosome 8q22, DNA and amino acid sequence determination of wild-type and mutant enzymes from different samples, expression in COS-7 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.15.4 L299P naturally occuring missense mutations involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the L299P mutation causes a change in the position of the I helix relative to the heme group, multisteroid analysis and phenotype, overview, the mutant enzymes shows 1.2% of wild-type activity with 11-deoxycortisol Homo sapiens
1.14.15.4 additional information isolation of a narually occuring in-frame 3-bp deletion, DELTAF438, in the CYP11B gene, that is involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the DELTAF438 mutation results in a steric disarrangement of the heme group relative to the enzyme, the mutant is inactive, phenotype, overview, molecular modeling of insertional and deletion mutations Homo sapiens
1.14.15.4 W116C naturally occuring missense mutations involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the W116C mutation influences the conformational change of the 11-hydroxylase protein necessary for substrate access and product release, multisteroid analysis and phenotype, overview, the mutant enzymes shows 2.9% of wild-type activity with 11-deoxycortisol Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
1.14.15.4 Fe2+ heme iron 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 deficiency of steroid 11-hydroxylase CYP11B1 due to mutations in the CYP11B1 gene causes congenital adrenal hyperplasia, a group of autosomal recessive disorders, overview cortisol + oxidized adrenal ferredoxin + H2O
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 ?

Organism

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2
-
 Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
-
 ?
1.14.15.4 11-deoxycortisol + reduced adrenal ferredoxin + O2 deficiency of steroid 11-hydroxylase CYP11B1 due to mutations in the CYP11B1 gene causes congenital adrenal hyperplasia, a group of autosomal recessive disorders, overview Homo sapiens cortisol + oxidized adrenal ferredoxin + H2O
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 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.4 CYP11B1
-
 Homo sapiens
1.14.15.4 steroid 11-hydroxylase
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 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.14.15.4 37
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.14.15.4 7.4
-
 assay at Homo sapiens

Cofactor

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