Aliases for ABCA8 Gene
External Ids for ABCA8 Gene
Previous GeneCards Identifiers for ABCA8 Gene
The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for ABCA8 Gene
ABCA8 (ATP Binding Cassette Subfamily A Member 8) is a Protein Coding gene. Diseases associated with ABCA8 include Ichthyosis, Congenital, Autosomal Recessive 4B and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA9.
UniProtKB/Swiss-Prot Summary for ABCA8 Gene
ATP-dependent lipophilic drug transporter.