ABCG8 (Q9H221) variants and mutations

ABCG8 (also known as Q9H221) is a human protein-coding gene encoding an ATP-binding cassette sub-family G member 8 protein. Together with ABCG5, it drives sterol efflux from hepatocytes and enterocytes, limiting absorption and promoting biliary elimination of cholesterol and plant sterols. Biallelic loss-of-function variants cause sitosterolemia and can lead to premature atherosclerotic cardiovascular disease. This analysis covers 1,424 ABCG8 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes sitosterolemia, sitosterolemia 1, and cholelithiasis. Example ABCG8 variants include M1I, M1T, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ABCG8 variants

Examples include M1I, M1T, A2T, A2S, A2D, A2V, A2A, G3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.