Aliases for ABCG8 Gene
External Ids for ABCG8 Gene
Previous GeneCards Identifiers for ABCG8 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 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, Jul 2008]
GeneCards Summary for ABCG8 Gene
ABCG8 (ATP Binding Cassette Subfamily G Member 8) is a Protein Coding gene. Diseases associated with ABCG8 include Sitosterolemia 1 and Sitosterolemia. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cholesterol transporter activity. An important paralog of this gene is ABCG2.
UniProtKB/Swiss-Prot Summary for ABCG8 Gene
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).