EC Number | Application | Comment | Organism |
---|---|---|---|
1.3.1.21 | diagnostics | enzyme activity measurement is useful for distinguishing Smith-Lemli-Opitz syndrome from carrier or unaffected cells, diagnosis of atypical cases, overview | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
1.3.1.21 | A247V | natural mutant, Smith-Lemli-Opitz syndrome patient, 3.1% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
1.3.1.21 | C380Y | natural mutant, Smith-Lemli-Opitz syndrome patient, 1.7% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
1.3.1.21 | additional information | mutation analysis and population study of patients with Smith-Lemli-Opitz syndrome, overview | Homo sapiens |
1.3.1.21 | R466Q | natural mutant, Smith-Lemli-Opitz syndrome patient, 1.0% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
1.3.1.21 | S169L | natural mutant, Smith-Lemli-Opitz syndrome patient, 6.2% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
1.3.1.21 | T154M | natural mutant, Smith-Lemli-Opitz syndrome patient, 8.2% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
1.3.1.21 | T93M | natural mutant, Smith-Lemli-Opitz syndrome patient, 7.0% of wild-type enzyme activity, disease severity score is not directly correlated | Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.3.1.21 | cholesta-5,7-dien-3beta-ol + NADPH | Homo sapiens | final step in cholesterol biosynthesis | cholesterol + NADP+ | - |
? | |
1.3.1.21 | additional information | Homo sapiens | over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types | ? | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.3.1.21 | Homo sapiens | - |
- |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
1.3.1.21 | amniocyte | of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients | Homo sapiens | - |
1.3.1.21 | chorionic villus | of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients | Homo sapiens | - |
1.3.1.21 | fibroblast | of healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients | Homo sapiens | - |
EC Number | Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|---|
1.3.1.21 | additional information | - |
relative activity levels in healthy persons, heterozygous persons, and Smith-Lemli-Opitz syndrome patients | Homo sapiens |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.3.1.21 | cholesta-5,7-dien-3beta-ol + NADPH | final step in cholesterol biosynthesis | Homo sapiens | cholesterol + NADP+ | - |
? | |
1.3.1.21 | cholesta-5,7-dien-3beta-ol + NADPH | i.e. 7-dehydrocholesterol | Homo sapiens | cholesterol + NADP+ | - |
? | |
1.3.1.21 | additional information | over 92% reduced enzyme activity, due to autosomal recessive mutational disorder, leads to the Smith-Lemli-Opitz syndrome in multiple cell types | Homo sapiens | ? | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
1.3.1.21 | 7-dehydrocholesterol DELTA7 reductase | - |
Homo sapiens |
1.3.1.21 | Dhcr7 | - |
Homo sapiens |
EC Number | Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|---|
1.3.1.21 | 37 | - |
in vivo enzyme assay at | Homo sapiens |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
1.3.1.21 | NADPH | - |
Homo sapiens |