Aliases for AKR1D1 Gene
External Ids for AKR1D1 Gene
Previous HGNC Symbols for AKR1D1 Gene
Previous GeneCards Identifiers for AKR1D1 Gene
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. [provided by RefSeq, Jul 2010]
GeneCards Summary for AKR1D1 Gene
AKR1D1 (Aldo-Keto Reductase Family 1 Member D1) is a Protein Coding gene. Diseases associated with AKR1D1 include Bile Acid Synthesis Defect, Congenital, 2 and Congenital Bile Acid Synthesis Defect. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. Gene Ontology (GO) annotations related to this gene include steroid binding and delta4-3-oxosteroid 5beta-reductase activity. An important paralog of this gene is AKR1C2.
UniProtKB/Swiss-Prot Summary for AKR1D1 Gene
Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one).