ABCG5 (Q9H222) variants and mutations

ABCG5 (also known as Q9H222) is a human protein-coding gene encoding an ATP-binding cassette sub-family G member 5 protein. Together with ABCG8, it limits sterol accumulation by promoting cholesterol and plant-sterol excretion into bile and back into the intestinal lumen. Biallelic loss-of-function variants cause sitosterolemia, with elevated plant sterols, premature atherosclerosis, and sometimes hematologic abnormalities. This analysis covers 1,285 ABCG5 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes sitosterolemia, sitosterolemia 2, and cholelithiasis. Example ABCG5 variants include M1T, M1V, and G2C.

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 ABCG5 variants

Examples include M1T, M1V, G2C, G2V, D3E, D3N, D3V, L4F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.