Cloned (Comment) | Organism |
---|---|
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 | Comment | Organism |
---|---|---|
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 |
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 |
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 | Comment | Organism | Structure |
---|---|---|---|
Fe2+ | heme iron | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
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 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
11-deoxycortisol + reduced adrenal ferredoxin + O2 | - |
Homo sapiens | cortisol + oxidized adrenal ferredoxin + H2O | - |
? | |
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 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
CYP11B1 | - |
Homo sapiens |
steroid 11-hydroxylase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.4 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
reduced adrenal ferredoxin | - |
Homo sapiens |