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Literature summary for 1.14.14.16 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
Search for more literature for 1.14.14.16

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
A265V the mutant enzyme activity is similar to wild type Homo sapiens
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
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]

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
CYP21A2
-
 Homo sapiens
Steroid 21-hydroxylase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
 Homo sapiens