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Literature summary extracted from

  • Ono, M.; Kashimada, K.; Miyai, K.; Onishi, T.; Takagi, M.; Honma, S.; Mizutani, S.
    In vitro enzyme assay of CYP21A2 mutation (R483Q) by a novel method using liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI-MS/MS) (2008), Clin. Pediatr. Endocrinol., 17, 49-56.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.14.16 expressed in COS-1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.16 R483Q the mutant enzyme activities in the conversion of progesterone to deoxycorticosterone and 17alpha-hydroxyprogesterone to 11-deoxycortisol are measured as 2.0 and 1.89% of the wild type, respectively Homo sapiens

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.16 17alpha-hydroxyprogesterone + AH2 + O2
-
Homo sapiens 11-deoxycortisol + A + H2O
-
?
1.14.14.16 progesterone + AH2 + O2
-
Homo sapiens deoxycorticosterone + A + H2O
-
?

Synonyms

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