Cloned (Comment) | Organism |
---|---|
gene CYP27A1, DNA and amino acid sequence determination and analysis, genotyping, overview | Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene CYP27A1 | - |
Synonyms | Comment | Organism |
---|---|---|
sterol 27-hydroxylase | - |
Homo sapiens |
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 |