HSD11B2: Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids. Defects in HSD11B2 are the cause of apparent mineralocorticoid excess (AME). An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: Lipid Metabolism - androgen and estrogen; Oxidoreductase; EC 1.1.1.-; Lipid Metabolism - C21-steroid hormone
Cellular Component: intracellular membrane-bound organelle; endoplasmic reticulum; cytoplasm
Molecular Function: mevaldate reductase activity; (R)-2-hydroxyglutarate dehydrogenase activity; phenylcoumaran benzylic ether reductase activity; aldo-keto reductase activity; oxidoreductase activity; isocitrate dehydrogenase activity; arabinose reductase activity; C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity; epoxide dehydrogenase activity; steroid binding; (R)-2-hydroxyisocaproate dehydrogenase activity; steroid dehydrogenase activity; 3-ketoglucose-reductase activity; 11-beta-hydroxysteroid dehydrogenase activity; D-arabinitol dehydrogenase (NADP+) activity; steroid dehydrogenase activity, acting on the CH-CH group of donors; 2-hydroxytetrahydrofuran dehydrogenase activity; 5-exo-hydroxycamphor dehydrogenase activity; acetoin dehydrogenase activity; NAD binding; steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; xylose reductase activity; gluconate dehydrogenase activity
Biological Process: glucocorticoid metabolic process; metabolic process; aldosterone mediated regulation of blood volume; female pregnancy
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