HSD11B1 Antibody – Rabbit Polyclonal

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]

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. Defects in HSD11B1 are a cause of 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). Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: Lipid Metabolism - androgen and estrogen; Membrane protein, integral; EC 1.1.1.146; Oxidoreductase; Lipid Metabolism - C21-steroid hormone; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 1q32-q41

Cellular Component: endoplasmic reticulum membrane; integral to membrane; membrane

Molecular Function: 11-beta-hydroxysteroid dehydrogenase activity

Biological Process: glucocorticoid biosynthetic process; lung development

Disease: Cortisone Reductase Deficiency 2