Title : ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Pub. Date : 2017 Nov - Dec

PMID : 29066094






2 Functional Relationships(s)
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1 OBJECTIVE: The aim of this work was to study the prevalence of ABCG5/G8 genetic variants in mutation-negative FH, as defects in these genes relate to intestinal hyperabsorption of cholesterol and thus ABCG5/G8 variants could explain in part the mechanism of hypercholesterolemia. Cholesterol ATP binding cassette subfamily G member 5 Homo sapiens
2 In addition, we found significantly higher concentrations of cholesterol absorption markers in mutation-negative FH with ABCG5/G8 defects than in mutation-negative, ABCG5/G8-negative FH. Cholesterol ATP binding cassette subfamily G member 5 Homo sapiens