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HSD11B1 / HSD11B 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, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.
Gene Name: | hydroxysteroid (11-beta) dehydrogenase 1 |
Synonyms: | HSD11B1, 11-beta-HSD1, 11-DH, CORTRD2, HSD11B, HSD11L, SDR26C1, HDL, HSD11 |
Target Sequences: | NM_005525 NP_005516.1 P28845 |
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