AKR1D1
Function
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).
Involvement in disease
Congenital bile acid synthesis defect 2
CBAS2
A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the aldo/keto reductase family.
Tissue Specificity
Highly expressed in liver. Expressed in testis and weakly in colon.
Cellular localization
- Cytoplasm
Alternative names
SRD5B1, AKR1D1, Aldo-keto reductase family 1 member D1, 3-oxo-5-beta-steroid 4-dehydrogenase, Delta(4)-3-ketosteroid 5-beta-reductase, Delta(4)-3-oxosteroid 5-beta-reductase