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Literature summary for 1.14.15.15 extracted from

  • Nozue, T.; Higashikata, T.; Inazu, A.; Kawashiri, M.A.; Nohara, A.; Kobayashi, J.; Koizumi, J.; Yamagishi, M.; Mabuchi, H.
    Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis (2010), Intern. Med., 49, 1127-1131.
    View publication on PubMed

Cloned(Commentary)

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

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 Homo sapiens
R104/R441QQ naturally occuring mutations, cause cerebrotendinous xanthomatosis Homo sapiens
R441W naturally occuring mutation, involved in cerebrotendinous xanthomatosis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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gene CYP27A1
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Synonyms

Synonyms Comment Organism
sterol 27-hydroxylase
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Homo sapiens

General Information

General Information Comment Organism
additional information cerebrotendinous xanthomatosis, CTX, is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase CYP27A1 gene Homo sapiens