Literature summary for 1.14.15.6 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.

Search for more literature for 1.14.15.6

Cloned(Commentary)

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

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

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

Metals/Ions

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

Natural Substrates/ Products (Substrates)

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

Organism	UniProt	Comment	Textmining
Homo sapiens	P05108	gene CYP11A1	-

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

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

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Release 2023.1 (January 2023)