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Literature summary for 1.3.1.72 extracted from

  • Waterham, H.R.; Koster, J.; Romeijn, G.J.; Hennekam, R.C.M.; Vreken, P.; Andersson, H.C.; FitzPatrick, D.R.; Kelley, R.I.; Wanders, R.J.A.
    Mutations in the 3beta-hydroxysterol DELTA24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis (2001), Am. J. Hum. Genet., 69, 685-694.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.3.1.72

Activating Compound

Activating Compound Comment Organism Structure
FAD activate 2fold when added to the assay Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
gene DHCR24, DNA and amino acid sequence determination and analysis of wild-type and natural desmosterolysis mutant genes, chromosomal mapping to 1p31.1-p33, functional expression of wild-type and mutant enzymes in Saccharomyces cerevisiae Homo sapiens

Protein Variants

Protein Variants Comment Organism
E191K natural mutant, 20% residual enzyme activity Homo sapiens
K306N natural mutant, 50% residual enzyme activity Homo sapiens
additional information DNA and amino acid sequence determination and analysis of natural desmosterolysis mutant gene containing mutations e.g. Y471S, N294T, K306N, and E191K on either 2 alleles, differing between different patients, phenotypes, overview Homo sapiens
N294T natural mutant, 14.4% residual enzyme activity Homo sapiens
N294T/K306N natural mutant, 0.8% residual enzyme activity Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
60100
-
 x * 60100, sequence calculation Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5alpha-cholesta-7,24-dien-3beta-ol + NADPH Homo sapiens 2 major alternate routes for cholesterol biosynthesis, step in the biosynthesis of cholesterol from lanosterol 5alpha-cholest-7-en-3beta-ol + NADP+
-
 ?
cholesta-5,7,24-trien-3beta-ol + NADPH Homo sapiens step in the biosynthesis of cholesterol from desmosterol cholest-5,7-dien-3beta-ol + NADP+
-
 ?
additional information Homo sapiens enzyme deficiency due to mutation cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis, patients show elevated levels of cholesterol precursor desmosterol in plasma and tissue ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene DHCR24
-

Posttranslational Modification

Posttranslational Modification Comment Organism
additional information enzyme possesses a potential N-terminal secretory signal Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5alpha-cholesta-7,24-dien-3beta-ol + NADPH
-
 Homo sapiens 5alpha-cholest-7-en-3beta-ol + NADP+
-
 ?
5alpha-cholesta-7,24-dien-3beta-ol + NADPH 2 major alternate routes for cholesterol biosynthesis, step in the biosynthesis of cholesterol from lanosterol Homo sapiens 5alpha-cholest-7-en-3beta-ol + NADP+
-
 ?
cholesta-5,7,24-trien-3beta-ol + NADPH
-
 Homo sapiens cholest-5,7-dien-3beta-ol + NADP+
-
 ?
cholesta-5,7,24-trien-3beta-ol + NADPH step in the biosynthesis of cholesterol from desmosterol Homo sapiens cholest-5,7-dien-3beta-ol + NADP+
-
 ?
additional information enzyme deficiency due to mutation cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis, patients show elevated levels of cholesterol precursor desmosterol in plasma and tissue Homo sapiens ?
-
 ?

Subunits

Subunits Comment Organism
? x * 60100, sequence calculation Homo sapiens

Synonyms

Synonyms Comment Organism
3beta-hydroxysterol DELTA24-reductase
-
 Homo sapiens
DHCR24
-
 Homo sapiens
More enzyme belongs to the family of flavin adenine dinucleotide-dependent oxidoreductases Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.2
-
 assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FAD dependent on, noncovalent binding Homo sapiens
NADPH strictly dependent on Homo sapiens