Cloned (Comment) | Organism |
---|---|
CYP11B1 genotyping, overview. Expression of wild-type and mutant CYP11B1s in COS-7 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A165D | naturally occuring mutation in CYP11B1, inactive or almost inactive mutant | Homo sapiens |
K254_A259del | naturally occuring mutation in CYP11B1, inactive or almost inactive mutant | Homo sapiens |
M88I | naturally occuring mutation in CYP11B1, the mutant shows 40% of wild-type activity | Homo sapiens |
P159L | naturally occuring mutation in CYP11B1, the mutant shows 25% of wild-type activity | Homo sapiens |
R366C | naturally occuring mutation in CYP11B1, the mutant shows 23% of wild-type activity | Homo sapiens |
R383Q | naturally occuring mutation in CYP11B1, the mutant shows highly reduced activity and is severely involved in CYP11B1 deficiency and congenital adrenal hyperplasia | Homo sapiens |
T401A | naturally occuring mutation in CYP11B1, the mutant shows 37% of wild-type activity | Homo sapiens |
W116G | naturally occuring mutation in CYP11B1, inactive or almost inactive mutant | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
11beta-hydroxylase | - |
Homo sapiens |
CYP11B1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | steroid 11beta-hydroxylase, CYP11B1, deficiency, i.e. 11OHD, is the second most common form of congenital adrenal hyperplasia. Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency, genotypes and phenotypes, overview | Homo sapiens |
physiological function | steroid 11beta-hydroxylase converts 11-deoxycortisol and 11-deoxycorticosterone to cortisol and corticosterone, respectively | Homo sapiens |