1.14.14.16: steroid 21-monooxygenase
This is an abbreviated version!
For detailed information about steroid 21-monooxygenase, go to the full flat file.
Word Map on EC 1.14.14.16
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1.14.14.16
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adrenal
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hyperplasia
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cortisol
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virilize
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androgen
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17-hydroxyprogesterone
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glucocorticoid
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children
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acth
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steroidogenic
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testosterone
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adrenocortical
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salt-wasting
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aldosterone
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hirsutism
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nonclassical
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prenatal
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girl
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androstenedione
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genitalia
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steroidogenesis
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mineralocorticoid
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hyperandrogenism
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hydrocortisone
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addison
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puberty
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11-deoxycortisol
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dehydroepiandrosterone
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beta-hydroxysteroid
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11beta-hydroxylase
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adrenarche
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p450scc
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c4a
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endocrinologist
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acth-stimulated
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pseudohermaphroditism
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debrisoquine
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biotechnology
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1'-hydroxylation
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hsd3b2
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incidentalomas
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cyp11b1
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masculinization
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bufuralol
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medicine
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deoxycorticosterone
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adrenocorticotropic
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11-deoxycorticosterone
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17alpha-hydroxylase
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dextromethorphan
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fludrocortisone
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hyperandrogenemia
- 1.14.14.16
- adrenal
- hyperplasia
- cortisol
-
virilize
- androgen
- 17-hydroxyprogesterone
- glucocorticoid
- children
- acth
-
steroidogenic
- testosterone
-
adrenocortical
-
salt-wasting
- aldosterone
- hirsutism
-
nonclassical
-
prenatal
- girl
- androstenedione
- genitalia
- steroidogenesis
-
mineralocorticoid
- hyperandrogenism
- hydrocortisone
- addison
- puberty
- 11-deoxycortisol
- dehydroepiandrosterone
-
beta-hydroxysteroid
-
11beta-hydroxylase
-
adrenarche
- p450scc
- c4a
-
endocrinologist
-
acth-stimulated
- pseudohermaphroditism
- debrisoquine
- biotechnology
-
1'-hydroxylation
- hsd3b2
-
incidentalomas
- cyp11b1
-
masculinization
- bufuralol
- medicine
- deoxycorticosterone
-
adrenocorticotropic
- 11-deoxycorticosterone
- 17alpha-hydroxylase
- dextromethorphan
-
fludrocortisone
-
hyperandrogenemia
Reaction
Synonyms
17alpha-hydroxyprogesterone 21-hydrolase, 21-hydroxylase, 21-hydroxylase cytochrome P-450, 21OH, C3B21RA protein, CYP21, CYP21A2, CYP2D, Cytochrome P-450 specific for steroid C-21 hydroxylation, cytochrome P-450-linked mixed function oxidase system, cytochrome P-450C-21, cytochrome p450 21A2, cytochrome P450 steroid 21-hydroxylase, cytochrome P450c21, EC 1.14.1.8, EC 1.14.99.10, EC 1.99.1.11, P-450(C21), P450 oxidoreductase-21-hydroxylase, P450-C21, P450-C21B, P450c21, Progesterone 21-hydroxylase, Steroid 21-hydroxylase, steroid 21-hydroxylase system, steroid 21-hydroxylation system, steroid cytochrome P450 21-hydroxylase
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General Information
General Information on EC 1.14.14.16 - steroid 21-monooxygenase
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malfunction
physiological function
additional information
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steroid 21-hydroxylase deficiency accounts for more than 90% of congenital adrenal hyperplasia
malfunction
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the naturally occuring 21-hydroxylase mutation H365Y/R356W is involved in congenital adrenal hyperplasia, an autosomal recessive The CYP21A2 H365Y mutant exhibits minimal 21-hydroxylase activity to convert 17-hydroxyprogesterone to 11-deoxycortisol or progesterone to 11-deoxycorticosterone. The H365Y mutant protein may be unstable and/or subject to a more rapid degradation by the human proteosome as well as catalytically inefficient. The double mutant genotype with a severe mutation on each allele is compatible with the clinical presentation
malfunction
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deficiency of CYP21A2 leading to congenital adrenal hyperplasia, is the most common autosomal recessive disease in human beings
malfunction
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mutations in the 21-hydroxylase CYP21A2 gene, e.g. H365Y, cause the autosomal recessive disorder congenital adrenal hyperplasia, phenotype, overview
malfunction
mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. The mutations can be associated either with severe salt-wasting or simple virilizing phenotypes or with milder nonclassical phenotypes, structure-phenotype correlations, overview. Mutations that affect membrane anchoring, disrupt heme and/or substrate binding, or impair stability of CYP21A2 cause complete loss of function and salt-wasting disease, while mutations altering the transmembrane region or conserved hydrophobic patches cause up to a 98% reduction in enzyme activity and simple virilizing disease
malfunction
steroid 21-hydroxylase deficiency accounts for about 95% of individuals with congenital adrenal hyperplasia, a common autosomal recessive metabolic disorder of adrenal steroidogenesis, mutations on CYP21A2 activity lead to impairment of the synthesis of cortisol and aldosterone and the excessive production of androgens
malfunction
deficiency of this enzyme is involved in about 95% of cases of human congenital adrenal hyperplasia
malfunction
deficiency of this enzyme is involved in about 95% of cases of human congenital adrenal hyperplasia
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CYP21 catalyses reactions of progesterone and 17alpha-hydroxyprogesterone conversion to 11-deoxycorticosterone and 11-deoxycortisol, respectively, providing an important step in aldosterone and cortisol biosynthesis. Direct molecular interactions, with electrostatic interactions playing a crucial role, between steroidogenic enzymes CYP17, EC 1.14.99.9, and CYP21 that are localized in endoplasmic reticulum membranes of adrenal cortex and involved in biosynthesis of corticosteroid hormones. The interaction in vitro reduces the catalytic activities of both enzymes at high ionic strength, i.e. 300 mM NaCl, while it increases activity at low ionic strength, i.e. 100 mM NaCl, overview
physiological function
CYP21A2 activities are required for cortisol and aldosterone biosynthesis, and involve the formation of energetically disfavored primary carbon radicals
physiological function
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human steroidogenic cytochrome P450 CYP21A2 is required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids
In autoimmune adrenal deficiency, autoantibodies target the 21-hydroxylase protein, 21-hydroxylase-specific T cells are CD8+ T cells. A T-cell epitope mapping study using 49 overlapping 20mer peptides covering the 21OH sequence in patients with isolated Addison's disease, Autoimmune Polyendocrine Syndrome 1 and 2 for determination of the epitopes targeted in autoimmune adrenal deficiency, detailed overview
additional information
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In autoimmune adrenal deficiency, autoantibodies target the 21-hydroxylase protein, 21-hydroxylase-specific T cells are CD8+ T cells. A T-cell epitope mapping study using 49 overlapping 20mer peptides covering the 21OH sequence in patients with isolated Addison's disease, Autoimmune Polyendocrine Syndrome 1 and 2 for determination of the epitopes targeted in autoimmune adrenal deficiency, detailed overview
additional information
residues L107, L109, V470, I471, and V359 contribute to the CYP21A2 substrate-binding pocket. Progesterone binds to CYP21A2 in a fundamentally different orientation than to CYP17A1, EC 1.14.99.9, expansion of the CYP21A2 substrate-binding pocket allows additional substrate trajectories and metabolic switching. CYP21A2 structure modelling, overview
additional information
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residues L107, L109, V470, I471, and V359 contribute to the CYP21A2 substrate-binding pocket. Progesterone binds to CYP21A2 in a fundamentally different orientation than to CYP17A1, EC 1.14.99.9, expansion of the CYP21A2 substrate-binding pocket allows additional substrate trajectories and metabolic switching. CYP21A2 structure modelling, overview
additional information
structure homology modelling using bovine CYP21A2 crystal structure as template. Close contact between the carbon of P30 in the N-terminal loop and the side chain of Y376 within the beta5-beta6 hairpin loop is critical for protein folding
additional information
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structure homology modelling using bovine CYP21A2 crystal structure as template. Close contact between the carbon of P30 in the N-terminal loop and the side chain of Y376 within the beta5-beta6 hairpin loop is critical for protein folding
additional information
the key substrate recognition residues are not only around the heme but also along the substrate access channel, structure-function analysis, overview
additional information
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the key substrate recognition residues are not only around the heme but also along the substrate access channel, structure-function analysis, overview