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Literature summary for 1.3.1.3 extracted from

  • Palermo, M.; Marazzi, M.G.; Hughes, B.A.; Stewart, P.M.; Clayton, P.T.; Shackleton, C.H.
    Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism (2008), Steroids, 73, 417-423.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
P198L 662C -T missense mutation in AKR1D1 causing an almost total absence of 5beta-reduced metabolites of corticosteroids and severely reduced production of 5beta-reduced metabolites of other steroids leading to hepatic failure of the homozygous mutant person, phenotype, overview. Heterozygous persons for the mutation show no phenotype or attenuated 5beta-reduction of cortisol, serum bile acid contents of mutant persons, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P51857
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-

Synonyms

Synonyms Comment Organism
AKR1D1
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Homo sapiens
DELTA4-3-oxosteroid 5beta-reductase
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Homo sapiens

General Information

General Information Comment Organism
physiological function the enzyme is responsible for steroid hormone 5beta-reduction, as well as for cholic acid and chenodeoxycholic bile-acid synthesis Homo sapiens