HSD11B1 ist ein Gen, das durch das Symbol HSD11B1 kodiert wird. Im Allgemeinen auch bezeichnet als: Corticosteroid 11-beta-dehydrogenase isozyme 1; 11-beta-hydroxysteroid dehydrogenase 1; 11-DH; Short chain dehydrogenase/reductase family 26C member 1; HSD11; HSD11L; SDR26C1. HSD11B1 hat eine Masse von 32.4kDa, eine Aminosäurelänge von 292, und ist an Cortisone reductase deficiency 2 beteiligt.
Wir bieten 10 antikörper gegen HSD11B1, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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 (By similarity).
Entrez Zusammenfassung
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.
Gewebespezifität
Widely expressed. Highest expression in liver.
Rolle bei Krankheiten
Cortisone reductase deficiency 2: An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males.
Sequenzähnlichkeiten
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Posttranslationale Modifikation
Glycosylated.
Zellort
Endoplasmic reticulum membrane.
