Cloned (Comment) | Organism |
---|---|
gene CYP11B1, DNA and amino acid sequence determination and analysis, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L299P | naturally occuring mutation in a consanguineous Turkish family, phenotype with complete external virilization, borderline elevated blood pressure, and genital alterations, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | 11-beta-hydroxylase deficiency, i.e. 11betaOHD is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene CYP11B1, a consanguineous Turkish family | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
adrenal gland | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | 11-beta-hydroxylase deficiency, i.e. 11betaOHD is caused by CYP11B1 gene defects and leads to congenital adrenal hyperplasia associated with hypertension, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
11-beta-hydroxylase | - |
Homo sapiens |