HSD11B1 è un gene codificato dal simbolo HSD11B1. Comunemente indicato anche come: 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 ha una massa di 32.4kDa, una lunghezza di amminoacidi di 292, ed è implicato in Cortisone reductase deficiency 2.
Offriamo 10 anticorpi contro HSD11B1, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
Widely expressed. Highest expression in liver.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Modifica post-translazionale
Glycosylated.
Posizione cellulare
Endoplasmic reticulum membrane.
