Aliases for HSD11B1 Gene
External Ids for HSD11B1 Gene
Previous HGNC Symbols for HSD11B1 Gene
Previous GeneCards Identifiers for HSD11B1 Gene
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]
GeneCards Summary for HSD11B1 Gene
HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1) is a Protein Coding gene. Diseases associated with HSD11B1 include Cortisone Reductase Deficiency 2 and Hyperandrogenism Due To Cortisone Reductase Deficiency. Among its related pathways are Metabolism and Steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. An important paralog of this gene is HSD11B1L.
UniProtKB/Swiss-Prot for HSD11B1 Gene
Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7-ketocholesterol to 7-beta-hydroxycholesterol (By similarity).
11beta-Hydroxysteroid Dehydrogenases (11beta-HSD) isozymes 11beta-HSD1 and 11beta-HSD2 catalyze the interconversion of cortisol and cortisone. 11beta-HSD1 converts cortisone to cortisol, the active hormone; and 11beta-HSD2 converts cortisol to cortisone, the inactive form.