Aliases for ABCG5 Gene
External Ids for ABCG5 Gene
Previous GeneCards Identifiers for ABCG5 Gene
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, Jul 2008]
GeneCards Summary for ABCG5 Gene
ABCG5 (ATP Binding Cassette Subfamily G Member 5) is a Protein Coding gene. Diseases associated with ABCG5 include Sitosterolemia and Short-Rib Thoracic Dysplasia 15 With Polydactyly. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Statin Pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cholesterol transporter activity. An important paralog of this gene is ABCG8.
UniProtKB/Swiss-Prot for ABCG5 Gene
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).