Gene Symbol | HSD11B1 |
Entrez Gene ID | 3290 |
Full Name | hydroxysteroid 11-beta dehydrogenase 1 |
Synonyms | 11-DH,11-beta-HSD1,CORTRD2,HDL,HSD11,HSD11B,HSD11L,SDR26C1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, 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.[provided by RefSeq, May 2011]. |
Disorder MIM: | |
Disorder Html: | Cortisone reductase deficiency 2, 614662 (3) |