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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P51857 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
AKR1D1 | - |
Homo sapiens |
DELTA4-3-oxosteroid 5beta-reductase | - |
Homo sapiens |
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 |