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Literature summary for 1.14.14.25 extracted from

  • Russell, D.W.; Halford, R.W.; Ramirez, D.M.; Shah, R.; Kotti, T.
    Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain (2009), Annu. Rev. Biochem., 78, 1017-1040.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.14.25

Cloned(Commentary)

Cloned (Comment) Organism
expressed in 293 cells Mus musculus
expressed in Escherichia coli Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Mus musculus 5783
-
microsome
-
 Rattus norvegicus
-
-
microsome
-
 Bos taurus
-
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
53000
-
 immunoblotting Mus musculus

Organism

Organism UniProt Comment Textmining
Bos taurus
-
-
-
Canis lupus familiaris
-
-
-
Cavia porcellus
-
-
-
Danio rerio A5WWJ0
-
-
Equus caballus
-
-
-
Equus sp.
-
 zebra
-
Gallus gallus
-
-
-
Homo sapiens
-
-
-
Macaca mulatta
-
-
-
Mus musculus
-
 C57BL/6J and 129S6/SvEv mice
-
Ornithorhynchus anatinus
-
-
-
Oryctolagus cuniculus
-
-
-
Pan troglodytes
-
-
-
Rattus norvegicus
-
-
-
Xenopus laevis Q7SYY2
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Rattus norvegicus
-
brain
-
 Bos taurus
-
brain
-
 Equus caballus
-
brain fetus, is largely confined to the brain Homo sapiens
-
brain is largely confined to the brain, neuron-specific expression Mus musculus
-
hippocampus high levels Mus musculus
-
liver small amounts, level is 100fold lower in the liver than in the brain Mus musculus
-
additional information the enzyme is absent from a cortical section from a cholesterol 24-hydroxylase knockout mouse Mus musculus
-
neuron large pyramidal cells and their dendrites in cortical layers II, III, V, and VI. Is absent from nonpyramidal cells that compose layer IV Mus musculus
-
SH-SY5Y cell contains cholesterol 24-hydroxylase mRNA but does not synthesize 24S-hydroxycholesterol Homo sapiens
-
testis small amounts, mRNA does not appear to be translated into protein in the testis Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Cavia porcellus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Mus musculus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Homo sapiens (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Rattus norvegicus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Bos taurus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Oryctolagus cuniculus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?
cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Equus caballus (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?

Synonyms

Synonyms Comment Organism
CYP46A1
-
 Gallus gallus
CYP46A1
-
 Cavia porcellus
CYP46A1
-
 Mus musculus
CYP46A1
-
 Homo sapiens
CYP46A1
-
 Rattus norvegicus
CYP46A1
-
 Bos taurus
CYP46A1
-
 Oryctolagus cuniculus
CYP46A1
-
 Canis lupus familiaris
CYP46A1
-
 Equus caballus
CYP46A1
-
 Macaca mulatta
CYP46A1
-
 Equus sp.
CYP46A1
-
 Pan troglodytes
CYP46A1
-
 Ornithorhynchus anatinus
CYP46A1
-
 Xenopus laevis
CYP46A1
-
 Danio rerio

Cofactor

Cofactor Comment Organism Structure
NADPH
-
 Cavia porcellus
NADPH
-
 Mus musculus
NADPH
-
 Homo sapiens
NADPH
-
 Rattus norvegicus
NADPH
-
 Bos taurus
NADPH
-
 Oryctolagus cuniculus
NADPH
-
 Equus caballus

Expression

Organism Comment Expression
Mus musculus expression of the gene in the mouse embryo as early as day 11.5 and gradual increase in mRNA and protein in postnatal brain. Over a 14-day culture period, during which the neurons extend processes and form increasing numbers of synapses but do not divide, there is a gradual increase in cholesterol 24-hydroxylase mRNA and protein up
Homo sapiens gradual increase in mRNA and protein in postnatal brain up

General Information

General Information Comment Organism
malfunction disruption of the cholesterol 24-hydroxylase gene causes an 50% decrease in cholesterol turnover, which is compensated for by an equal decrease in the rate of de novo cholesterol synthesis. Mice lacking cholesterol 24-hydroxylase show that whole-body fatty acid and cholesterol metabolism are normal. Profound learning disabilities in cholesterol 24-hydroxylase-deficient mice are often caused by gross anatomical defects in the subregions of the brain implicated in the behavior. A minimal concentration of 0.2 mM geranylgeraniol is required to restore LTP in hippocampal slices from knockout mice Mus musculus
physiological function polymorphisms in the human gene are linked to neurodegenerative disorders, such as Alzheimer's disease Homo sapiens
physiological function the capacity to turn over cholesterol via the cholesterol 24-hydroxylase pathway may be acquired early during development of the central nervous system. The enzyme reduces the excretion of sterols from the brain but does not abolish this removal process Mus musculus