Structural highlights
Disease
[C11B2_HUMAN] Familial hyperreninemic hypoaldosteronism type 1;Familial hyperaldosteronism type I. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.
Function
[C11B2_HUMAN] Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.[1]
Publication Abstract from PubMed
[Figure: see text].
Aldosterone Synthase Structure With Cushing Disease Drug LCI699 Highlights Avenues for Selective CYP11B Drug Design.,Brixius-Anderko S, Scott EE Hypertension. 2021 Sep;78(3):751-759. doi: 10.1161/HYPERTENSIONAHA.121.17615., Epub 2021 Jul 12. PMID:34247511[2]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
References
- ↑ Strushkevich N, Gilep AA, Shen L, Arrowsmith CH, Edwards AM, Usanov SA, Park HW. Structural insights into aldosterone synthase substrate specificity and targeted inhibition. Mol Endocrinol. 2013 Feb;27(2):315-24. doi: 10.1210/me.2012-1287. Epub 2013 Jan, 15. PMID:23322723 doi:http://dx.doi.org/10.1210/me.2012-1287
- ↑ Brixius-Anderko S, Scott EE. Aldosterone Synthase Structure With Cushing Disease Drug LCI699 Highlights Avenues for Selective CYP11B Drug Design. Hypertension. 2021 Sep;78(3):751-759. doi: 10.1161/HYPERTENSIONAHA.121.17615., Epub 2021 Jul 12. PMID:34247511 doi:http://dx.doi.org/10.1161/HYPERTENSIONAHA.121.17615
