HSD11B1 Chromosome 1
Hydroxysteroid 11-beta dehydrogenase 1
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000117594
Associated Conditions (1)
Cortisone reductase deficiency 2
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387907168 | Health Risk | Pathogenic | Cortisone reductase deficiency 2, Cortisone reductase deficiency 2 |
| RS756817759 | Health Risk | Pathogenic | Cortisone reductase deficiency 2, Cortisone reductase deficiency 2 |