AKR1D1 Antibody – Mouse Monoclonal

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]

AKR1D1: Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates. Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2); also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. Belongs to the aldo/keto reductase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.3.1.3; Lipid Metabolism - C21-steroid hormone; Lipid Metabolism - androgen and estrogen; Lipid Metabolism - primary bile acid biosynthesis; Oxidoreductase

Chromosomal Location of Human Ortholog: 7q32-q33

Cellular Component: cytosol

Molecular Function: aldo-keto reductase activity; steroid binding

Biological Process: androgen metabolic process; bile acid biosynthetic process; C21-steroid hormone metabolic process; cholesterol catabolic process; digestion

Disease: Bile Acid Synthesis Defect, Congenital, 2