[HTML][HTML] Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27−/− mice but not in cerebrotendinous …
A Honda, G Salen, Y Matsuzaki, AK Batta, G Xu… - Journal of Biological …, 2001 - ASBMB
The accumulation of various 25-hydroxylated C 27-bile alcohols in blood and their excretion
in urine are characteristic features of cerebrotendinous xanthomatosis (CTX) a recessively
inherited inborn error of bile acid synthesis caused by mutations in the mitochondrial sterol
27-hydroxylase (CYP27) gene. These bile alcohols may be intermediates in the alternative
cholic acid side chain cleavage pathway. The present study was undertaken to identify
enzymes and reactions responsible for the formation of these bile alcohols and to explain …
in urine are characteristic features of cerebrotendinous xanthomatosis (CTX) a recessively
inherited inborn error of bile acid synthesis caused by mutations in the mitochondrial sterol
27-hydroxylase (CYP27) gene. These bile alcohols may be intermediates in the alternative
cholic acid side chain cleavage pathway. The present study was undertaken to identify
enzymes and reactions responsible for the formation of these bile alcohols and to explain …