Cloned (Comment) | Organism |
---|---|
gene CYP17A1, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H373L | the replacement causes complete loss of both 17alpha-hydroxylase and 17,20-lyase activities with a defect in heme binding due to a global alteration of P450c17 structure. The mutation is combined with another mutation, a deletion of codon 53 or 54 encoding Phe, TTC, in exon 1, DELTAF54, on a maternal allele. Both mutations together partially abolish both 17alpha-hydroxylase and 17,20-lyase activities. Enzyme deficiency causes clitoromegaly, phenotype, overview | Homo sapiens |
H373N | the substitution results in markedly reduced production of 17alpha-hydroxyprogesterone at 0.2% of the wild-type P450c17 and no production of androstenedione | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
progesterone + AH2 + O2 | Homo sapiens | - |
17alpha-hydroxyprogesterone + A + H2O | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
progesterone + AH2 + O2 | - |
Homo sapiens | 17alpha-hydroxyprogesterone + A + H2O | - |
? |
Synonyms | Comment | Organism |
---|---|---|
17alpha-hydroxylase/17,20-lyase | - |
Homo sapiens |
CYP17A1 | - |
Homo sapiens |