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Literature summary extracted from

  • Bleicken, C.; Loidi, L.; Dhir, V.; Parajes, S.; Quinteiro, C.; Dominguez, F.; Groetzinger, J.; Sippell, W.G.; Riepe, F.G.; Arlt, W.; Krone, N.
    Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system (2009), Hum. Mutat., 30, E443-E450.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.14.16 mutant enzymes are expressed in Saccharomyces cerevisiae strain W303B Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.16 A265V the mutant enzyme activity is similar to wild type Homo sapiens
1.14.14.16 D322G the mutation impacts significantly on enzyme function and exerts activity compatible with non-classical congenital adrenal hyperplasia, has about 27% activity for the conversion of progesterone to 11-deoxycorticosterone and 18% activity for the conversion of 17alpha-hydroxyprogesterone to 11-deoxycortisol compared to wild type activity Homo sapiens
1.14.14.16 W302S the mutation impacts significantly on enzyme function and exerts activity compatible with simple virilizing congenital adrenal hyperplasia, has residual enzyme activity of about 3% compared to wild type activity for both, the conversion of progesterone to 11-deoxycorticosterone and the conversion of 17alpha-hydroxyprogesterone to 11-deoxycortisol Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.14.14.16 0.00072
-
 progesterone mutant enzyme D322G, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens
1.14.14.16 0.00072
-
 progesterone wild type enzyme, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens
1.14.14.16 0.00079
-
 progesterone mutant enzyme A265V, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens
1.14.14.16 0.00135
-
 17alpha-hydroxyprogesterone mutant enzyme D322G, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens
1.14.14.16 0.00138
-
 17alpha-hydroxyprogesterone wild type enzyme, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens
1.14.14.16 0.00181
-
 17alpha-hydroxyprogesterone mutant enzyme A265V, in 50 mM potassium phosphate buffer (pH 7.4), at 37°C Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.14.14.16 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.16 17alpha-hydroxyprogesterone + NADPH + H+ + O2
-
 Homo sapiens 11-deoxycortisol + NADP+ + H2O
-
 ?
1.14.14.16 progesterone + NADPH + H+ + O2
-
 Homo sapiens deoxycorticosterone + NADP+ + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.14.16 CYP21A2
-
 Homo sapiens
1.14.14.16 Steroid 21-hydroxylase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.14.16 NADPH
-
 Homo sapiens