ATP binding cassette subfamily G member 8
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalFamilial hypercholesterolaemia
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalSitosterolaemia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal+2 more panels — install the extension to see the full list inline on any page.
sitosterolemia
sitosterolemia 1
cholelithiasis
Hypercholesterolemia
Abnormality of the cardiovascular system
Disorder of lipid metabolism
Cholecystitis
gallstones
response to statin
metabolic disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP-binding cassette sub-family G member 8
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356)
Curated MONDO disease pages that list ABCG8 among their top associated genes.
ABCG8 · Q9H221
Mean pLDDT
80.6/ 100
Confident
673 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
