Cholesterol is secreted via the heterodimer transporter ABCG5/ABCG8 (genes ABCG5/ABCG8) also called sterolin, and mutations in ABCG5/ABCG8 genes can cause sitosterolemia, which has a varied clinical presentation including associated liver disease (28, 29). This evidence concerns the gene ABCG8 and sitosterolemia.