Ontology highlight
ABSTRACT:
SUBMITTER: Pullinger CR
PROVIDER: S-EPMC151029 | biostudies-literature | 2002 Jul
REPOSITORIES: biostudies-literature
Pullinger Clive R CR Eng Celeste C Salen Gerald G Shefer Sarah S Batta Ashok K AK Erickson Sandra K SK Verhagen Andrea A Rivera Christopher R CR Mulvihill Sean J SJ Malloy Mary J MJ Kane John P JP
The Journal of clinical investigation 20020701 1
Bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis. The CYP7A1 gene encodes the enzyme cholesterol 7alpha-hydroxylase, which catalyzes the initial step in cholesterol catabolism and bile acid synthesis. We report here a new metabolic disorder presenting with hyperlipidemia caused by a homozygous deletion mutation in CYP7A1. The mutation leads to a frameshift (L413fsX414) that results in loss of the active site and enzyme function. High levels of LDL ...[more]