EC Number   |
General Information |
Reference |
|---|
    1.14.14.16 | malfunction |
deficiency of CYP21A2 leading to congenital adrenal hyperplasia, is the most common autosomal recessive disease in human beings |
728213 |
| 1.14.14.16 | malfunction |
deficiency of this enzyme is involved in about 95% of cases of human congenital adrenal hyperplasia |
734302 |
| 1.14.14.16 | malfunction |
mutations in the 21-hydroxylase CYP21A2 gene, e.g. H365Y, cause the autosomal recessive disorder congenital adrenal hyperplasia, phenotype, overview |
716052 |
| 1.14.14.16 | 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 |
728691 |
| 1.14.14.16 | 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 |
727898 |
| 1.14.14.16 | malfunction |
steroid 21-hydroxylase deficiency accounts for more than 90% of congenital adrenal hyperplasia |
695941 |
| 1.14.14.16 | malfunction |
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 |
716052 |
| 1.14.14.16 | more |
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 |
715325 |
| 1.14.14.16 | more |
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 |
726962 |
| 1.14.14.16 | more |
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 |
728691 |
