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Literature summary extracted from

  • Kim, C.J.; Lin, L.; Huang, N.; Quigley, C.A.; AvRuskin, T.W.; Achermann, J.C.; Miller, W.L.
    Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc (2008), J. Clin. Endocrinol. Metab., 93, 696-702.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.15.6 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

EC Number Protein Variants Comment Organism
1.14.15.6 c835delA a naturally occuring CYP11A1 frameshift mutation, heterozygous mutant, phenotype, overview Homo sapiens
1.14.15.6 L141W a naturally occuring CYP11A1 missense mutation, heterozygous mutant, phenotype, overview Homo sapiens
1.14.15.6 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
1.14.15.6 V415E a naturally occuring CYP11A1 missense mutation, heterozygous mutant, phenotype, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.14.15.6 mitochondrion
-
Homo sapiens 5739
-

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
1.14.15.6 Fe2+ a cytochrome P450 enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.15.6 cholesterol + reduced adrenal ferredoxin + O2 Homo sapiens
-
pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin
-
?

Organism

EC Number Organism UniProt Comment Textmining
1.14.15.6 Homo sapiens P05108 gene CYP11A1
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.15.6 cholesterol + reduced adrenal ferredoxin + O2
-
Homo sapiens pregnenolone + 4-methylpentanal + oxidized adrenal ferredoxin
-
?

Synonyms

EC Number Synonyms Comment Organism
1.14.15.6 cholesterol side chain cleavage enzyme
-
Homo sapiens
1.14.15.6 cytochrome P450scc
-
Homo sapiens
1.14.15.6 P450scc
-
Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.15.6 cytochrome P450
-
Homo sapiens
1.14.15.6 reduced adrenal ferredoxin
-
Homo sapiens