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Article

Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype.

The Journal of clinical investigation - 1 Jul 2002

Pullinger Clive R, Eng Celeste, Salen Gerald, Shefer Sarah, Batta Ashok K, Erickson Sandra K, Verhagen Andrea, Rivera Christopher R, Mulvihill Sean J, Malloy Mary J, Kane John P

Abstract excerpt

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...

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Source

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Identifiers

PMID: 12093894
DOI: 10.1172/JCI15387
PMCID: PMC151029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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