Application | Comment | Organism |
---|---|---|
diagnostics | enzyme activity measurement can be a tool for prognosis of the Smith-Lemli-Opitz syndrome | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
gene dhcr7, maps to chromosome 11q13, determination of gene structure and organisation, DNA sequence determination and analysis of wild-type and natural mutant genes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | 91 naturally occurring mutations, expression study, analysis of genotypes and phenotypes, e.g. the Smith-Lemli-Opitz syndrome, resulting from diverse naturally occurring mutations in gene dhcr7, biochemical and physiological effects, e.g. low cholesterol and high precurosor 7-hydrocholesterol contents, overview | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
additional information | in enzyme deficiency, accumulated 7-dehydrocholesterol suppresses sterol biosynthesis in vivo | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
membrane | 9 putative transmembrane segments, predicted membrane topology of the enzyme | Homo sapiens | 16020 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
54500 | - |
x * 54500, about, sequence calculation | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
cholesta-5,7-dien-3beta-ol + NADPH | Homo sapiens | terminal step in cholesterol de novo biosynthesis, physiological role, overview | cholesterol + NADP+ | - |
? | |
additional information | Homo sapiens | a mutational enzyme defect causes the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, with low cholesterol and high precurosor 7-hydrocholesterol contents in plasma and tissues, clinical symptoms, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene dhcr7, enzyme DHCR7 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
adrenal gland | high expression level | Homo sapiens | - |
brain | high expression level | Homo sapiens | - |
liver | high expression level | Homo sapiens | - |
testis | high expression level | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
cholesta-5,7-dien-3beta-ol + NADPH | terminal step in cholesterol de novo biosynthesis, physiological role, overview | Homo sapiens | cholesterol + NADP+ | - |
? | |
cholesta-5,7-dien-3beta-ol + NADPH | i.e. 7-dehydrocholesterol | Homo sapiens | cholesterol + NADP+ | - |
? | |
additional information | a mutational enzyme defect causes the Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, with low cholesterol and high precurosor 7-hydrocholesterol contents in plasma and tissues, clinical symptoms, overview | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 54500, about, sequence calculation | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
Dhcr7 | - |
Homo sapiens |
sterol DELTA7-reductase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NADPH | - |
Homo sapiens |