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ABCG5 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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia.
Gene Name: | ATP-binding cassette, sub-family G (WHITE), member 5 |
Family/Subfamily: | Transporter , ATP-binding cassette - ABCG/WHITE |
Synonyms: | ABCG5, STSL, Sterolin, Sterolin 1, Sterolin-1 |
Target Sequences: | NM_022436 NP_071881.1 Q9H222 |
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