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Literature summary for 1.3.1.21 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

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

Cloned(Commentary)

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

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

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

Localization

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

Natural Substrates/ Products (Substrates)

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

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

Source Tissue

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 and Products (Substrate)

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

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

Synonyms

Synonyms Comment Organism
Dhcr7
-
Homo sapiens
sterol DELTA7-reductase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
Homo sapiens