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abcg8

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Official Full Name
ATP-binding cassette, sub-family G (WHITE), member 8
Background
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.
Synonyms
ABCG8; ATP-binding cassette, sub-family G (WHITE), member 8; ATP binding cassette, sub family G (WHITE), member 8 (sterolin 2); ATP-binding cassette sub-family G member 8; gallbladder disease 4; GBD4; sterolin 2; sterolin-2; ATP-binding cassette, subfamil; ATP-binding cassette, subfamily G, member 8; STSL; MGC142217; zgc:172358