Entrez gene ID | | 64241 |
Official gene symbol | | ABCG8 |
Full name | | ATP-binding cassette, sub-family G (WHITE), member 8 |
Aliases | | ,GBD4,MGC142217,STSL, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2p21 |
Gene position | | 44066103 - 44105605 Map Viewer |
Gene orientation | | plus |
Gene size | | 39503 bp |
Gene sequence |
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OMIM ID | | 605460 |
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