AKR1C2 est un gène codé par le symbole AKR1C2. D'autres noms incluent: Aldo-keto reductase family 1 member C2; 3-alpha-HSD3; Chlordecone reductase homolog HAKRD; Dihydrodiol dehydrogenase 2; DD-2; Dihydrodiol dehydrogenase/bile acid-binding protein; DD/BABP; Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; Type III 3-alpha-hydroxysteroid dehydrogenase; DDH2. AKR1C2 a une masse de 36.74kDa, une longueur d'acide aminé de 323, et est impliqué dans 46,XY sex reversal 8.
Nous proposons 5 des anticorps contre AKR1C2, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability.
Résumé Entrez
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene.
Spécificité tissulaire
Expressed in fetal testes. Expressed in fetal and adult adrenal glands.
Implication dans la maladie
46,XY sex reversal 8: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.
Similitudes de séquence
Belongs to the aldo/keto reductase family.
Localisation cellulaire
Cytoplasm.
