Summary of HSD11B1
The gene codes for a protein, hydroxysteroid 11-beta dehydrogenase 1. Mutations cause cortisone reductase deficiency [R].
The Function of HSD11B1
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.
Protein names
Recommended name:
Corticosteroid 11-beta-dehydrogenase isozyme 1Short name:
11-DHAlternative name(s):
11-beta-hydroxysteroid dehydrogenase 111-beta-HSD1
Short chain dehydrogenase/reductase family 26C member 1
- RS11119328 (HSD11B1) ??
- RS12086634 (HSD11B1) ??
- RS2235543 (HSD11B1) ??
- RS3753519 (HSD11B1) ??
- RS4844880 (HSD11B1) ??
- RS846910 (HSD11B1) ??
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Top Gene-Substance Interactions
HSD11B1 Interacts with These Diseases
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Substances That Increase HSD11B1
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Substances That Decrease HSD11B1
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Advanced Summary
From NCBI Gene: Cortisone reductase deficiency 2From UniProt: Cortisone reductase deficiency (CRD): In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). [MIM:604931]
From NCBI 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] From UniProt: 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.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Widely expressed. Highest expression in liver.
Gene Pathways:
Molecular Function:
- 11-Beta-Hydroxysteroid Dehydrogenase (Nadp+) Activity
- 11-Beta-Hydroxysteroid Dehydrogenase
- 11-Beta-Hydroxysteroid Dehydrogenase [Nad(P)] Activity