Literature summary for 1.14.14.19 extracted from

Dhir, V.; Reisch, N.; Bleicken, C.M.; Lebl, J.; Kamrath, C.; Schwarz, H.P.; Groetzinger, J.; Sippell, W.G.; Riepe, F.G.; Arlt, W.; Krone, N.
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene (2009), J. Clin. Endocrinol. Metab., 94, 3058-3064.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene CYP17A1, genotyping	Homo sapiens

Protein Variants

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 [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
0.00055	-	pregnenolone	-	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
microsome	-	Homo sapiens	-	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
pregnenolone + AH2 + O2	Homo sapiens	-	17alpha-hydroxypregnenolone + A + H2O	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene CYP17A1	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
pregnenolone + AH2 + O2	-	Homo sapiens	17alpha-hydroxypregnenolone + A + H2O	-	?

Synonyms

Synonyms	Comment	Organism
CYP17A1	-	Homo sapiens
P450c17	-	Homo sapiens
steroid 17alpha-hydroxylase	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
NADPH	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	natural mutations causing CYP17A1 deficiency, i.e. 17OHD, a rare form of congenital adrenal hyperplasia	Homo sapiens

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Release 2023.1 (January 2023)