Any feedback?
Literature summary for 1.14.14.16 extracted from
- A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods (2009), J. Biomed. Sci., 16, 3-3.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| I172N | the mutation is associated with congenital adrenal hyperplasia | Homo sapiens |
| additional information | an insertion (duplication) of 9-bp in exon 2 results in addition of three valine residues at codon 71 of the P450c21 protein lowering the structural stability of P450c21 thereby leading to the probable loss of its function | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P08686 | - |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 21-hydroxylase | - |
Homo sapiens |
| P450c21 | - |
Homo sapiens |
Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.
Release 2023.1 (January 2023)
Legal
Curated at
Member of
