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Literature summary for 1.3.99.6 extracted from

  • Lemonde, H.A.; Custard, E.J.; Bouquet, J.; Duran, M.; Overmars, H.; Scambler, P.J.; Clayton, P.T.
    Mutations in SRD5B1 (AKR1D1), the gene encoding DELTA4-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy (2003), Gut, 52, 1494-1499.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene SRD5B1, DNA sequence determination and analysis from healthy persons and 3 different patients with neonatal onset cholestatic liver disease and normal gamma-glutamyl transpeptidase activity, parents and siblings Homo sapiens

Protein Variants

Protein Variants Comment Organism
L106F naturally occurring mutation of C385T in patient RM, homozygous, patient shows giant cell hepatitis and prominent extramedullary haemopoiesis Homo sapiens
additional information in patient BH naturally occurs a frame shift due to a base deletion, 511delT, resulting in a premature stop codon in exon 5, patient shows giant cell hepatitis and prominent extramedullary haemopoiesis Homo sapiens
P198L naturally occurring mutation of C662T in patient MS, homozygous, patient shows giant cell hepatitis Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme is essential in bile acids formation, analysis of bile acid contents in urine and plasma from healthy persons and 3 different patients with neonatal onset cholestatic liver disease, physiolgical role of the enzyme, overview ?
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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 gene SRD5B1, enzyme AKR1D1, healthy persons and 3 different patients with neonatal onset cholestatic liver disease and normal gamma-glutamyl transpeptidase activity
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Source Tissue

Source Tissue Comment Organism Textmining
liver
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 Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information enzyme is essential in bile acids formation, analysis of bile acid contents in urine and plasma from healthy persons and 3 different patients with neonatal onset cholestatic liver disease, physiolgical role of the enzyme, overview Homo sapiens ?
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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