HSD11B1 est un gène codé par le symbole HSD11B1. Communément appelé aussi: 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 a une masse de 32.4kDa, une longueur d'acide aminé de 292, et est impliqué dans Cortisone reductase deficiency 2.
Nous proposons 10 des anticorps contre HSD11B1, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé 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 (By similarity).
Résumé Entrez
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.
Spécificité tissulaire
Widely expressed. Highest expression in liver.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Modification post-traductionnelle
Glycosylated.
Localisation cellulaire
Endoplasmic reticulum membrane.
