Aliases for ABCG4 Gene
External Ids for ABCG4 Gene
Previous GeneCards Identifiers for ABCG4 Gene
The protein encoded by this gene is included in 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 and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCG4 Gene
ABCG4 (ATP-Binding Cassette, Sub-Family G (WHITE), Member 4) is a Protein Coding gene. Diseases associated with ABCG4 include x-linked sideroblastic anemia with ataxia and stargardt disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG8.
UniProtKB/Swiss-Prot for ABCG4 Gene
May be involved in macrophage lipid homeostasis