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 | 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 | 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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene SRD5B1, enzyme AKR1D1, healthy persons and 3 different patients with neonatal onset cholestatic liver disease and normal gamma-glutamyl transpeptidase activity | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
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 | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
AKR1D1 | - |
Homo sapiens |
DELTA4-3-oxosteroid 5beta-reductase | - |
Homo sapiens |