hydroxysteroid (11-beta) dehydrogenase 1
Symbol
HSD11B1
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| LOC100333777 | Danio rerio | |
| Hsd11b1 | Mus musculus | |
| Hsd11b1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006704 | glucocorticoid biosynthetic process | biological_process | |
| GO:0008202 | steroid metabolic process | biological_process | |
| GO:0030324 | lung development | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0005783 | endoplasmic reticulum | cellular_component | |
| GO:0005789 | endoplasmic reticulum membrane | cellular_component | |
| GO:0016020 | membrane | cellular_component | |
| GO:0016021 | integral to membrane | cellular_component | |
| GO:0000166 | nucleotide binding | molecular_function | |
| GO:0003845 | 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity | molecular_function | |
| GO:0016491 | oxidoreductase activity | molecular_function | |
| GO:0070524 | 11-beta-hydroxysteroid dehydrogenase (NADP+) activity | molecular_function | |