Gene: HSD11B1 (hydroxysteroid (11-beta) dehydrogenase 1)  Homo sapiens

Symbol: HSD11B1
Name: hydroxysteroid (11-beta) dehydrogenase 1
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 11-beta-HSD1; 11-beta-hydroxysteroid dehydrogenase 1; 11-DH; corticosteroid 11-beta-dehydrogenase isozyme 1; CORTRD2; HDL; HSD11; HSD11B; HSD11L; hydroxysteroid 11-beta dehydrogenase 1; MGC13539; OTTHUMP00000034649; OTTHUMP00000034650; SDR26C1; short chain dehydrogenase/reductase family 26C, member 1
Orthologs: Mus musculus : Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1)  MGI
Rattus norvegicus : Hsd11b1 (hydroxysteroid 11-beta dehydrogenase 1)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11216,664,691 - 216,713,462+NCBI
Human Genome Assembly HuRef1180,534,794 - 180,583,575+NCBI
Human Genome Assembly GRCh371209,859,525 - 209,908,295+NCBI
Human Genome Assembly Build 361207,926,173 - 207,974,918+NCBI
Human Cytogenetic Map1q32-q41 NCBI
Human Genome Assembly1206,266,585 - 206,296,690 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
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References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on HSD11B1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 737091
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2013-06-04
Status: ACTIVE