Cloned (Comment) | Organism |
---|---|
gene SRD5B1, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G223E | the naturally occuring mutation of gene SRD5B1 are involved in hyper-3-oxo-DELTA4 bile aciduria from primary 3-oxo-DELTA4-steroid 5beta-reductase deficiency, phenotypes, overview | Homo sapiens |
R217stop | the naturally occuring mutation of gene SRD5B1 are involved in hyper-3-oxo-DELTA4 bile aciduria from primary 3-oxo-DELTA4-steroid 5beta-reductase deficiency, phenotypes, overview | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P51857 | gene SRD5B1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
3-oxo-DELTA4-steroid 5beta-reductase | - |
Homo sapiens |
AKR1D1 | - |
Homo sapiens |