Entrez gene ID | | 64240 |
Official gene symbol | | ABCG5 |
Full name | | ATP-binding cassette, sub-family G (WHITE), member 5 |
Aliases | | ,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 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. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2p21 |
Gene position | | 44065958 - 44039611 Map Viewer |
Gene orientation | | minus |
Gene size | | 26348 bp |
Gene sequence |
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OMIM ID | | 605459 |
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