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Literature summary for 1.14.15.15 extracted from

  • Schneider, H.; Lingesleben, A.; Vogel, H.P.; Garuti, R.; Calandra, S.
    A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis (2010), Orphanet J. Rare Dis., 5, 27.
    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 genomic analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information naturally occuring mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis, CTX. A German patient is a compound heterozygote carrying two mutations both located in exon 8, phenotypes, overview. One mutation is a novel four nucleotide deletion, c.1330-1333delTTCC, that results in a frameshift and the occurrence of a premature stop codon leading to the formation of a truncated protein of 448 amino acids. The other mutation, previously reported, is a C - > T transition, c.c.1381C-T, that converts the glutamine codon at position 461 into a termination codon, p.Q461X Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
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 Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene CYP27A1
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Source Tissue

Source Tissue Comment Organism Textmining
central nervous system
-
 Homo sapiens
-
lens
-
 Homo sapiens
-
tendon
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
CYP27A1
-
 Homo sapiens
sterol 27-hydroxylase
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 Homo sapiens

General Information

General Information Comment Organism
additional information mutations of gene CYP27A1 cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the central nervous system. This disorder is the cause of a clinical syndrome known as cerebrotendinous xanthomatosis, CTX, phenotype, overview Homo sapiens