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. [provided by RefSeq, Jul 2010]

Full Name

Aldo-Keto Reductase Family 1 Member D1

Function

Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta4-3-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).

Biological Process

Androgen metabolic process Source: UniProtKB
Bile acid biosynthetic process Source: UniProtKB
Bile acid catabolic process Source: UniProtKB-KW
C21-steroid hormone metabolic process Source: UniProtKB
Cholesterol catabolic process Source: UniProtKB
Digestion Source: UniProtKB
Steroid metabolic process Source: GO_Central

Cellular Location

Cytoplasm

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.