Short chain dehydrogenase/reductase family 9C, member 3
功能Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids.
组织特异性Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon.
疾病相关Defects in HSD11B2 are the cause of apparent mineralocorticoid excess (AME) [MIM:218030]. AME is a potentially fatal disease characterized by severe juvenile low-renin hypertension, sodium retention, hypokalemia and low levels of aldosterone. It often leads to nephrocalcinosis.
序列相似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.