[HTML][HTML] On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation
M Norlin, S von Bahr, I Björkhem, K Wikvall - Journal of lipid research, 2003 - ASBMB
The mitochondrial sterol 27-hydroxylase (CYP27A1) is required for degradation of the C 27-
sterol side chain in bile acid biosynthesis. CYP27A1 seems, however, to have roles beyond
this, as illustrated by patients with a deficient sterol 27-hydroxylase due to mutations of the
CYP27A1 gene [cerebrotendinous xanthomatosis (CTX)]. These subjects have symptoms
ranging from accumulation of bile alcohols and cholestanol to accelerated atherosclerosis
and progressive neurologic impairment. The present work describes a detailed investigation …
sterol side chain in bile acid biosynthesis. CYP27A1 seems, however, to have roles beyond
this, as illustrated by patients with a deficient sterol 27-hydroxylase due to mutations of the
CYP27A1 gene [cerebrotendinous xanthomatosis (CTX)]. These subjects have symptoms
ranging from accumulation of bile alcohols and cholestanol to accelerated atherosclerosis
and progressive neurologic impairment. The present work describes a detailed investigation …