C113166Level 5
HSD11B1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human HSD11B1 wild-type allele is located within 1q32-q41 and is approximately 49 kb in length. This allele, which encodes 11-beta-hydroxysteroid dehydrogenase 1 protein, plays a role in the metabolism of cortisol. Mutation of the gene is associated with cortisone reductase deficiency.
**Synonyms:** - 11-DH - 11-beta-HSD1 - CORTRD2 - HDL - HSD11 - HSD11B - HSD11L - Hydroxysteroid (11-Beta) Dehydrogenase 1 wt Allele - SDR26C1 - Short Chain Dehydrogenase/Reductase Family 26C, Member 1 Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.