| GENE NAME | ABCG5 |
| CHROMOSOME | 2 |
| ENSEMBL ID | ENSG00000138075 |
| ENTREZ ID | 64240 |
| UNIPROT ACCESSION NUMBER | Q9H222 |
| GO MOLECULAR FUNCTION | ATPase-coupled transmembrane transporter activity; protein binding; ATP hydrolysis activity; metal ion binding; ATP binding; protein heterodimerization activity; ABC-type transporter activity; cholesterol transfer activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-382556; R-HSA-162582; hsa04975; R-HSA-5679096; hsa02010; hsa04976; R-HSA-1369062; R-HSA-1643685; hsa04979; R-HSA-5619115; R-HSA-9024446; R-HSA-9006931; R-HSA-9029569; R-HSA-5619084; R-HSA-5679090; R-HSA-382551 |
| 1 combination linked to ABCG5 | OLI1215 |
| 1 variant linked to ABCG5 | ABCG5:c.1166G>A, p.Arg389His |
| 1 disease linked to ABCG5 | NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |