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Literature summary for 1.14.14.16 extracted from
- 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.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expressed in COS-1 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| 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
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|
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 |
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Release 2023.1 (January 2023)
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