Steroid 21-hydroxylase
Synonym(s)
DefinitionThis section has been translated automatically.
Oxidoreductase localized in the cells of the adrenal cortex, which is essential for the biosynthesis of the steroid hormones aldosterone and cortisol. The key enzyme steroid-21-hydroxylase catalyzes the oxidation of the C21 carbon molecule in the steroid molecule (conversion of 17-OH-progesterone or progesterone to 11-deoxycortisol), a step that is essential for the structural design of the molecular structure of these steroid hormones.
General informationThis section has been translated automatically.
The reason for the mutation of the gene lies in a recombination step with an inactive pseudogen located on the same chromosome section, which is necessary for the formation of these hormones.
Note(s)This section has been translated automatically.
Autoantibodies against steroid 21-hydroxylase lead to autoimmune adrenalitis and destruction of the adrenal cortex. They are the cause of primary adrenal insufficiency(Addison's disease - E27.1-). Furthermore, autoantibodies against this oxyreductase are found in polyglandular autoimmune syndromes (E31.0).
LiteratureThis section has been translated automatically.
- Bansal S et al (2015) Presence of 21-hydroxylase Antibodies in a Boy with X-Linked Adrenal HypoplasiaCongenita
. Horm Res Paediatr 84:408-413. - Dörr HG et al. (2018) Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. BMC Endocr Disord 18:37.