" /> HSD11B2 wt Allele - CISMeF





Preferred Label : HSD11B2 wt Allele;

NCIt synonyms : Hydroxysteroid 11-Beta Dehydrogenase 2 wt Allele; 11-Beta-HSD2 Gene; 11-Beta-Hydroxysteroid Dehydrogenase, Type II Gene; Hydroxysteroid (11-Beta) Dehydrogenase 2 Gene; HSD11K; HSD11, Kidney and Placental Type Gene; AME1; AME; HSD2; HSD11, Type II Gene; Short Chain Dehydrogenase/Reductase Family 9C, Member Gene; SDR9C3;

NCIt definition : Human HSD11B2 wild-type allele is located in the vicinity of 16q22.1 and is approximately 8 kb in length. This allele, which encodes 11-beta-hydroxysteroid dehydrogenase type 2 protein, is involved in the metabolism of corticosteroids. Mutations in this gene are associated with 11-beta-hydroxysteroid dehydrogenase type 2 deficiency, which results in apparent mineralocorticoid excess syndrome.;

GenBank Accession Number : U14631;

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20/05/2024


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