Cloned (Comment) | Organism |
---|---|
gene CYP27A1, DNA and amino acid sequence determination and genomic analysis, genotyping | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene CYP27A1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
central nervous system | - |
Homo sapiens | - |
lens | - |
Homo sapiens | - |
tendon | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
CYP27A1 | - |
Homo sapiens |
sterol 27-hydroxylase | - |
Homo sapiens |
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 |