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Article

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

BMC medical genetics - 28 Feb 2006

Pandit Bhaswati, Ahn Gwang-Sook, Hazard Starr E, Gordon Derek, Patel Shailendra B

Abstract excerpt

BACKGROUND: Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event and are arranged in a head-to-head configuration. We report here a detailed characterization of the STSL in Caucasian and...

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
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Source

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Identifiers

PMID: 16507104
DOI: 10.1186/1471-2350-7-13
PMCID: PMC1413519

Genes

ABCG8
ABCG5

Variants

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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