Defective ABCG5 causes sitosterolemia

Stable Identifier
R-HSA-5679096
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective ABCG5 causes sitosterolemia
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ATP-binding cassette sub-family G member 5 (ABCG5 aka sterolin-1), is a "half transporter", that forms a complex with another half transporter ABCG8 (aka sterolin-2) in the endoplasmic reticulum. This complex translocates to the plasma membrane to mediate the ATP-dependent intestinal absorption and facilitation of biliary secretion of cholesterol and phytosterols (e.g. sitosterol). Defects in either of these half transporters result in loss of enterocyte discrimination between cholesterol and sitosterol causing sterol accumulation and predisposition for atherosclerosis. Defects in ABCG5 are the cause of sitosterolemia (MIM:210250), characterised by unrestricted intestinal absorption of both cholesterol and plant-derived sterols causing hypercholesterolemia and premature coronary atherosclerosis. Patients with sitosterolemia absorb between 15 and 60% of ingested sitosterol and excrete only a fraction of this into the bile (Berge et al. 2000, Othman et al. 2013, Yu et al. 2014).
Literature References
PubMed ID Title Journal Year
24267242 Non-cholesterol sterols and cholesterol metabolism in sitosterolemia

Othman, RA, Jones, PJ, Myrie, SB

Atherosclerosis 2013
11099417 Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

Graf, GA, Hobbs, HH, Barnes, R, Kwiterovich, P, Shan, B, Grishin, NV, Schultz, J, Tian, H, Yu, L, Berge, KE

Science 2000
24252657 ABCG5/ABCG8 in cholesterol excretion and atherosclerosis

Zheng, XL, Yu, XH, Cayabyab, FS, Tang, CK, Qian, K, Jiang, N

Clin. Chim. Acta 2014
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Disease
Name Identifier Synonyms
lipid metabolism disorder DOID:3146 dyslipidemia, fatty acid metabolism disorder
Authored
Jassal, B  (2015-03-02)
Reviewed
Shukla, S  (2015-09-15)
Created
Jassal, B  (2015-03-02)
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