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Article

Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.

The Journal of biological chemistry - 4 Jun 2004

Graf Gregory A, Cohen Jonathan C, Hobbs Helen H

Abstract excerpt

Mutations in ABCG5 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal recessive disease characterized by sterol accumulation and premature atherosclerosis. G5 and G8 are ATP-binding cassette (ABC) half-transporters that must heterodimerize to move to the apical surface of cells. We examined th...

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Source

Identifiers

PMID: 15054092
DOI: 10.1074/jbc.M402634200

Genes

ABCG5
ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15054092-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.PMID 15054092Read ↗

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.Semantic proximity Read ↗

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.Semantic proximity Read ↗

ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.Semantic proximity Read ↗

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterolsSemantic proximity Read ↗

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous MutationSemantic proximity Read ↗

Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.Semantic proximity Read ↗

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery DiseaseSemantic proximity Read ↗

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.Semantic proximity Read ↗

Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.Semantic proximity Read ↗

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.Semantic proximity Read ↗

Molecular mechanisms of subcellular localization of ABCG5 and ABCG8.Semantic proximity Read ↗

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