AKR1D1 Back

aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)

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NCBI Description of AKR1D1

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


AKR1D1 is highly significantly mutated in
AKR1D1 is significantly mutated in
AKR1D1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for AKR1D1