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Literature summary extracted from

  • Jira, P.E.; Waterham, H.R.; Wanders, R.J.; Smeitink, J.A.; Sengers, R.C.; Wevers, R.A.
    Smith-Lemli-Opitz syndrome and the DHCR7 gene (2003), Ann. Hum. Genet., 67, 269-280.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.3.1.21 diagnostics enzyme activity measurement can be a tool for prognosis of the Smith-Lemli-Opitz syndrome Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.1.21 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

EC Number Protein Variants Comment Organism
1.3.1.21 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

EC Number Inhibitors Comment Organism Structure
1.3.1.21 additional information in enzyme deficiency, accumulated 7-dehydrocholesterol suppresses sterol biosynthesis in vivo Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.1.21 membrane 9 putative transmembrane segments, predicted membrane topology of the enzyme Homo sapiens 16020
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
1.3.1.21 54500
-
 x * 54500, about, sequence calculation Homo sapiens

Natural Substrates/ Products (Substrates)

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 terminal step in cholesterol de novo biosynthesis, physiological role, overview cholesterol + NADP+
-
 ?
1.3.1.21 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

EC Number Organism UniProt Comment Textmining
1.3.1.21 Homo sapiens
-
 gene dhcr7, enzyme DHCR7
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.1.21 adrenal gland high expression level Homo sapiens
-
1.3.1.21 brain high expression level Homo sapiens
-
1.3.1.21 liver high expression level Homo sapiens
-
1.3.1.21 testis high expression level Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH terminal step in cholesterol de novo biosynthesis, physiological role, overview 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 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

EC Number Subunits Comment Organism
1.3.1.21 ? x * 54500, about, sequence calculation Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
1.3.1.21 Dhcr7
-
 Homo sapiens
1.3.1.21 sterol DELTA7-reductase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.1.21 NADPH
-
 Homo sapiens