Cloned (Comment) | Organism |
---|---|
gene CYP11A1, DNA and amino acid sequence determination of wild-type and mutant enzymes, expression in HeLa cells and COS-1 cells, functional studies of P450scc RNA splicing | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
c835delA | a naturally occuring CYP11A1 frameshift mutation, heterozygous mutant, phenotype, overview | Homo sapiens |
L141W | a naturally occuring CYP11A1 missense mutation, heterozygous mutant, phenotype, overview | Homo sapiens |
additional information | mutation of CYP11A1 leads to individuals with 46,XY disorders of sex development and primary adrenal failure, identification of P450scc mutations in children, analysis of genotype/phenotype correlations, overview | Homo sapiens |
V415E | a naturally occuring CYP11A1 missense mutation, heterozygous mutant, phenotype, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Fe2+ | a cytochrome P450 enzyme | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
cholesterol + reduced adrenal ferredoxin + O2 | Homo sapiens | - |
pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P05108 | gene CYP11A1 | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
cholesterol + reduced adrenal ferredoxin + O2 | - |
Homo sapiens | pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
cholesterol side chain cleavage enzyme | - |
Homo sapiens |
cytochrome P450scc | - |
Homo sapiens |
P450scc | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
cytochrome P450 | - |
Homo sapiens | |
reduced adrenal ferredoxin | - |
Homo sapiens |