Cloned (Comment) | Organism |
---|---|
gene CYP17A1, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A174E/K388X | naturally occuring mutation leading to CYP17A1 deficiency and adrenal hyperplasia, phenotype, overview | Homo sapiens |
L465P | naturally occuring mutation leading to CYP17A1 deficiency and adrenal hyperplasia, phenotype, overview | Homo sapiens |
V178D/R440C | naturally occuring mutation leading to CYP17A1 deficiency and adrenal hyperplasia, phenotype, overview | Homo sapiens |
KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
0.00055 | - |
pregnenolone | - |
Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
microsome | - |
Homo sapiens | - |
- |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
pregnenolone + AH2 + O2 | Homo sapiens | - |
17alpha-hydroxypregnenolone + A + H2O | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene CYP17A1 | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
pregnenolone + AH2 + O2 | - |
Homo sapiens | 17alpha-hydroxypregnenolone + A + H2O | - |
? |
Synonyms | Comment | Organism |
---|---|---|
CYP17A1 | - |
Homo sapiens |
P450c17 | - |
Homo sapiens |
steroid 17alpha-hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NADPH | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | natural mutations causing CYP17A1 deficiency, i.e. 17OHD, a rare form of congenital adrenal hyperplasia | Homo sapiens |