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Literature summary for 1.14.15.15 extracted from

  • Bavner, A.; Shafaati, M.; Hansson, M.; Olin, M.; Shpitzen, S.; Meiner, V.; Leitersdorf, E.; Bjoerkhem, I.
    On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase (2010), J. Lipid Res., 51, 2722-2730.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene CYP27A1, DNA and amino acid sequence determination and analysis, genotyping, overview Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information naturally occuring mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis, CTX. One of two Japanese patients is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8, the other patient is a compound heterozygote for Arg441Trp in exon 8 and a second mutation not identified Mus musculus
R104/R441QQ naturally occuring mutations, cause cerebrotendinous xanthomatosis Mus musculus
R441W naturally occuring mutation, involved in cerebrotendinous xanthomatosis Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
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 Mus musculus 5739
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Organism

Organism UniProt Comment Textmining
Mus musculus
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 gene CYP27A1
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Source Tissue

Source Tissue Comment Organism Textmining
brain
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 Mus musculus
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liver
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 Mus musculus
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tendon
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 Mus musculus
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Synonyms

Synonyms Comment Organism
CYP27A1
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 Mus musculus
sterol 27-hydroxylase
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 Mus musculus

General Information

General Information Comment Organism
additional information the rare disease cerebrotendinous xanthomatosis, CTX, is caused by a lack of CYP27A1 in humans, characterized by cholestanol-containing xanthomas in brain and tendons, but mice with the same defect do not develop xanthomas. Female cyp27a1 knockout mice have an increase of cholestanol of about 2.5fold in plasma, 6fold in tendons, and 12fold in brain. Treatment of cyp27a1-/- mice with 0.05% cholic acid normalizes the cholestanol levels in tendons and plasma and reduces the content in the brain. No significant difference between cyp27a1 knockout mice and wild-type mice with respect to content of cholesterol in the brain. 7alpha-Hydroxy-4-cholesten-3-one is an important precursor of cholestanol in the brain of the cyp27a1 knockoout mice Mus musculus