Recombinant Human 11-beta-hydroxysteroid dehydrogenase 1 (HSD11B1), Truncated

Uniprot Id

P28845

Target Species

Human

Target Name

HSD11B1

Target Full Name

11-beta-hydroxysteroid dehydrogenase 1

Target Function

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.

Target Involvement

Cortisone reductase deficiency 2 (CORTRD2)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Target Protein Families

Short-chain dehydrogenases/reductases (SDR) family

Target Tissue Specificity

Widely expressed. Highest expression in liver.

Target Synonyms

11 beta HSD 1; 11 beta HSD1 ; 11 beta hydroxysteroid dehydrogenase 1; 11 DH ; 11-beta hydroxysteroid dehydrogenase; type 1; 11-beta-HSD1; 11-beta-hydroxysteroid dehydrogenase 1; 11-DH; 11DH ; Corticosteroid 11 beta dehydrogenase isozyme 1; Corticosteroid 11-beta-dehydrogenase isozyme 1; CORTRD2; DHI1_HUMAN; HDL; HSD 11; HSD11; HSD11B; HSD11B1; HSD11L; Hydroxysteroid (11 beta) dehydrogenase ; Hydroxysteroid (11 beta) dehydrogenase 1; MGC13539; SDR26C1; short chain dehydrogenase/reductase family 26C; member 1

Target Background

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.