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Literature summary extracted from

  • Correa-Cerro, L.S.; Porter, F.D.
    3beta-hydroxysterol DELTA7-reductase and the Smith-Lemli-Opitz syndrome (2005), Mol. Genet. Metab., 84, 112-126.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.1.21 DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 11q12-13 Homo sapiens
1.3.1.21 DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 7F5 Mus musculus
1.3.1.21 DNA and amino acid sequence determination, gene structure and organization, gene dhcr7 maps to chromosome 8q2.1 Rattus norvegicus

Protein Variants

EC Number Protein Variants Comment Organism
1.3.1.21 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

EC Number Inhibitors Comment Organism Structure
1.3.1.21 AY9944 noncompetitive, specific inhibitor Homo sapiens
1.3.1.21 AY9944 noncompetitive, specific inhibitor Mus musculus
1.3.1.21 AY9944 noncompetitive, specific inhibitor Rattus norvegicus
1.3.1.21 BM15.766 noncompetitive, specific inhibitor Homo sapiens
1.3.1.21 BM15.766 noncompetitive, specific inhibitor Mus musculus
1.3.1.21 BM15.766 noncompetitive, specific inhibitor Rattus norvegicus

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.1.21 7-dehydrodesmosterol + NADPH Mus musculus
-
 desmosterol + NADP+
-
 ?
1.3.1.21 7-dehydrodesmosterol + NADPH Rattus norvegicus
-
 desmosterol + NADP+
-
 ?
1.3.1.21 7-dehydrodesmosterol + NADPH Homo sapiens terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview desmosterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH Mus musculus
-
 cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH Rattus norvegicus
-
 cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH Homo sapiens terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview cholesterol + NADP+
-
 ?
1.3.1.21 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

EC Number Organism UniProt Comment Textmining
1.3.1.21 Homo sapiens
-
-
-
1.3.1.21 Mus musculus
-
-
-
1.3.1.21 Rattus norvegicus
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.1.21 brain high desmosterol synthesis Homo sapiens
-
1.3.1.21 breast exocrine, high desmosterol synthesis Homo sapiens
-
1.3.1.21 testis high desmosterol synthesis Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.21 7-dehydrodesmosterol + NADPH
-
 Mus musculus desmosterol + NADP+
-
 ?
1.3.1.21 7-dehydrodesmosterol + NADPH
-
 Homo sapiens desmosterol + NADP+
-
 ?
1.3.1.21 7-dehydrodesmosterol + NADPH
-
 Rattus norvegicus desmosterol + NADP+
-
 ?
1.3.1.21 7-dehydrodesmosterol + NADPH terminal step in desmosterol de novo biosynthesis, pathway and physiological role, overview Homo sapiens desmosterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH
-
 Mus musculus cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH
-
 Rattus norvegicus cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH terminal step in cholesterol de novo biosynthesis, pathway and physiological role, overview Homo sapiens cholesterol + NADP+
-
 ?
1.3.1.21 cholesta-5,7-dien-3beta-ol + NADPH i.e. 7-dehydrocholesterol Mus musculus 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 cholesta-5,7-dien-3beta-ol + NADPH i.e. 7-dehydrocholesterol Rattus norvegicus cholesterol + NADP+
-
 ?
1.3.1.21 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

EC Number Subunits Comment Organism
1.3.1.21 More protein structure Mus musculus
1.3.1.21 More protein structure Homo sapiens
1.3.1.21 More protein structure Rattus norvegicus

Synonyms

EC Number Synonyms Comment Organism
1.3.1.21 3beta-hydroxysterol DELTA7-reductase
-
 Mus musculus
1.3.1.21 3beta-hydroxysterol DELTA7-reductase
-
 Homo sapiens
1.3.1.21 3beta-hydroxysterol DELTA7-reductase
-
 Rattus norvegicus
1.3.1.21 Dhcr7
-
 Mus musculus
1.3.1.21 Dhcr7
-
 Homo sapiens
1.3.1.21 Dhcr7
-
 Rattus norvegicus

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.1.21 NADPH
-
 Mus musculus
1.3.1.21 NADPH
-
 Homo sapiens
1.3.1.21 NADPH
-
 Rattus norvegicus