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Literature summary extracted from

  • Barbaro, M.; Lajic, S.; Baldazzi, L.; Balsamo, A.; Pirazzoli, P.; Cicognani, A.; Wedell, A.; Cacciari, E.
    Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia (2004), J. Clin. Endocrinol. Metab., 89, 2402-2407.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.16 A15T natural mutation found in patients with classical congenital adrenal hyperplasia, no significant difference in activity compared to wild-type Homo sapiens
1.14.14.16 P482S natural mutation found in patients with nonclassical congenital adrenal hyperplasia, precocious pubarche, menstrual irregularities or hypertrichosis, about 70% of activity compared to wild-type Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.14.14.16 2.3
-
 17-hydroxy-progesterone 37°C, mutant P482S Homo sapiens
1.14.14.16 3
-
 progesterone 37°C, mutant P482S Homo sapiens
1.14.14.16 6.4
-
 progesterone 37°C, wild-type Homo sapiens
1.14.14.16 8.5
-
 17-hydroxy-progesterone 37°C, wild-type Homo sapiens
1.14.14.16 9.2
-
 progesterone 37°C, mutant A15T Homo sapiens
1.14.14.16 9.2
-
 17-hydroxy-progesterone 37°C, mutant A15T Homo sapiens

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
1.14.14.16 0.00027
-
 37°C, mutant P482S, substrate 17-hydroxy-progesterone Homo sapiens
1.14.14.16 0.00038
-
 37°C, mutant P482S, substrate progesterone Homo sapiens
1.14.14.16 0.00117
-
 37°C, wild-type, substrate progesterone Homo sapiens
1.14.14.16 0.00122
-
 37°C, wild-type, substrate 17-hydroxy-progesterone Homo sapiens
1.14.14.16 0.00129
-
 37°C, mutant A15T, substrate 17-hydroxy-progesterone Homo sapiens
1.14.14.16 0.00148
-
 37°C, mutant A15T, substrate progesterone Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.16 17-hydroxy-progesterone + NADH + O2
-
 Homo sapiens 17-hydroxy-11-deoxy-corticosterone + NAD+ + H2O
-
 ?
1.14.14.16 progesterone + NADH + O2
-
 Homo sapiens deoxycorticosterone + NAD+ + H2O
-
 ?