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Literature summary for 1.3.1.21 extracted from
- 3beta-hydroxysterol DELTA7-reductase and the Smith-Lemli-Opitz syndrome (2005), Mol. Genet. Metab., 84, 112-126.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 11q12-13 | Homo sapiens |
| DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 7F5 | Mus musculus |
| DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 8q2.1 | Rattus norvegicus |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | analysis of dhcr7 gene structure and naturally occurring mutations in the dhcr7 gene leading to formation of several congenital disorders with diverse symptoms, mutant genotypes and phenotypes, overview | Homo sapiens |
Inhibitors
| Inhibitors | Comment | Organism | Structure |
|---|---|---|---|
| AY9944 | noncompetitive, specific inhibitor | Homo sapiens |  |
| AY9944 | noncompetitive, specific inhibitor | Mus musculus | |
| AY9944 | noncompetitive, specific inhibitor | Rattus norvegicus | |
| BM15.766 | noncompetitive, specific inhibitor | Homo sapiens | |
| BM15.766 | noncompetitive, specific inhibitor | Mus musculus | |
| BM15.766 | noncompetitive, specific inhibitor | Rattus norvegicus | |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 7-dehydrodesmosterol + NADPH | Mus musculus | - |
desmosterol + NADP+ | - |
? | |
| 7-dehydrodesmosterol + NADPH | Rattus norvegicus | - |
desmosterol + NADP+ | - |
? | |
| 7-dehydrodesmosterol + NADPH | Homo sapiens | terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview | desmosterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | Mus musculus | - |
cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | Rattus norvegicus | - |
cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | Homo sapiens | terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview | cholesterol + NADP+ | - |
? | |
| additional information | Homo sapiens | several enzyme mutational defects cause the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital malformations and mental retardation, or desmosterolosis and lathosterolosis, rare autosomal recessive disorders, defect cholesterol synthesis, clinical symptoms, overview | ? | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
| Mus musculus | - |
- |
- |
| Rattus norvegicus | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | high desmosterol synthesis | Homo sapiens | - |
| breast | exocrine, high desmosterol synthesis | Homo sapiens | - |
| testis | high desmosterol synthesis | Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 7-dehydrodesmosterol + NADPH | - |
Mus musculus | desmosterol + NADP+ | - |
? | |
| 7-dehydrodesmosterol + NADPH | - |
Homo sapiens | desmosterol + NADP+ | - |
? | |
| 7-dehydrodesmosterol + NADPH | - |
Rattus norvegicus | desmosterol + NADP+ | - |
? | |
| 7-dehydrodesmosterol + NADPH | terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview | Homo sapiens | desmosterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | - |
Mus musculus | cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | - |
Rattus norvegicus | cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview | Homo sapiens | cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | i.e. 7-dehydrocholesterol | Mus musculus | cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | i.e. 7-dehydrocholesterol | Homo sapiens | cholesterol + NADP+ | - |
? | |
| cholesta-5,7-dien-3beta-ol + NADPH | i.e. 7-dehydrocholesterol | Rattus norvegicus | cholesterol + NADP+ | - |
? | |
| additional information | several enzyme mutational defects cause the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital malformations and mental retardation, or desmosterolosis and lathosterolosis, rare autosomal recessive disorders, defect cholesterol synthesis, clinical symptoms, overview | Homo sapiens | ? | - |
? | |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| More | protein structure | Mus musculus |
| More | protein structure | Homo sapiens |
| More | protein structure | Rattus norvegicus |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 3beta-hydroxysterol DELTA7-reductase | - |
Mus musculus |
| 3beta-hydroxysterol DELTA7-reductase | - |
Homo sapiens |
| 3beta-hydroxysterol DELTA7-reductase | - |
Rattus norvegicus |
| Dhcr7 | - |
Mus musculus |
| Dhcr7 | - |
Homo sapiens |
| Dhcr7 | - |
Rattus norvegicus |
Cofactor
| Cofactor | Comment | Organism | Structure |
|---|---|---|---|
| NADPH | - |
Mus musculus | |
| NADPH | - |
Homo sapiens | |
| NADPH | - |
Rattus norvegicus | |
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