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infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively
Impaired NADPH (show NQO1 Antibodies) binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1.
When different steroid substrates were used in single turnover experiments with AKR1D1.
AKR1D1 generates all 5beta-dihydrosteroids in the C19-C27 steroid series.
Despite having high kchem values with steroid hormones, the kinetic control of AKR1D1 is consistent with the enzyme catalysing the slowest step in the catabolic sequence of steroid hormone transformation in the liver.
Studies indicate that mutations in aldo-keto reductase family 1 (AKR1) enzymes AKR1C1 (show DDH Antibodies) and AKR1C4 (show AKR1C4 Antibodies) are responsible for sexual development dysgenesis and mutations in AKR1D1 are causative in bile-acid deficiency.
Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L (show SKIV2L Antibodies) gene were found in a family with severe infantile liver disease.
Consistent with AKR1D1's putative role as a driver of the P450 (show CYP2B6 Antibodies) subnetwork, the AKR1D1 3'-UTR (show UTS2R Antibodies) SNP was significantly associated with increased hepatic mRNA expression of multiple P450s
These studies show how a single point mutation in AKR1D1 can introduce HSD (show CHST3 Antibodies) activity with unexpected configurational and stereochemical preference.
all five mutations identified in patients with functional bile acid deficiency strongly affected AKR1D1 enzyme functionality and therefore may be causal for this disease
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.
, delta 4-3-ketosteroid-5-beta-reductase
, delta(4)-3-ketosteroid 5-beta-reductase
, delta(4)-3-oxosteroid 5-beta-reductase
, steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)
, aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
, aldo-keto reductase family 1 member D1
, delta4-3-oxosteroid 5beta-reductase