HSD11B1

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]

Description

Hydroxysteroid 11-beta dehydrogenase 1

Tissue specificity

Tissue enriched (liver)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (209686178 - 209734949)

Ensembl ID

ENSG00000117594  (ver. 103.38)

Orthologs

Mouse Hsd11b1: ENSMUSG00000016194

UniProt

P28845

neXtProt

NX_P28845

Human splice variants
Mouse splice variants

Protein structure