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Literature summary for 1.14.14.16 extracted from

  • Riepe, F.G.; Hiort, O.; Groetzinger, J.; Sippell, W.G.; Krone, N.; Holterhus, P.M.
    Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction (2008), J. Clin. Endocrinol. Metab., 93, 2891-2895.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
mutant enzymes are expressed in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
K122Q missense mutation causing nonclassical 21-hydroxylase deficiency, shows reduced activity of 14% for the conversion of 17alpha-hydroxyprogesterone and 19% for the conversion of progesterone compared to wild type Homo sapiens
P453S the mutant shows a reduced activity of 36% of wild type for the conversion of 17alpha-hydroxyprogesterone and 44% for the conversion of progesterone Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
0.0015
-
progesterone wild type enzyme Homo sapiens
0.0015
-
progesterone mutant enzyme P453S Homo sapiens
0.0016
-
17alpha-hydroxyprogesterone wild type enzyme Homo sapiens
0.002
-
17alpha-hydroxyprogesterone mutant enzyme P453S Homo sapiens
0.0024
-
progesterone mutant enzyme K121Q Homo sapiens
0.0026
-
17alpha-hydroxyprogesterone mutant enzyme K121Q Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
17alpha-hydroxyprogesterone + AH2 + O2
-
Homo sapiens 11-deoxycortisol + A + H2O
-
?
progesterone + AH2 + O2
-
Homo sapiens deoxycorticosterone + A + H2O
-
?

Synonyms

Synonyms Comment Organism
21-hydroxylase
-
Homo sapiens
CYP21
-
Homo sapiens
P450 oxidoreductase-21-hydroxylase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
cytochrome P450
-
Homo sapiens