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Official Full Name: hydroxysteroid 11-beta dehydrogenase 1
Also known as: HDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1
The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, converting cortisone to cortisol. Too much cortisol leads to central obesity, and a particular variant of this gene has been linked to childhood obesity and insulin resistance. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are responsible for cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.