DISEASES

Disease-gene associations mined from literature

Literature on AKR1D1

AKR1D1 [ENSP00000242375]

Aldo-keto reductase family 1 member D1; 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). ECO:0000269|PubMed:20522910, ECO:0000269|PubMed:21255593,; Belongs to the aldo/keto reductase family.

Synonyms:  AKR1D1,  AKR1D1p,  hAKR1D1,  C9J3U1,  P51857 ...

Linkouts:  STRING  Pharos  UniProt  OMIM