Aliases for ABCA13 Gene
External Ids for ABCA13 Gene
Previous GeneCards Identifiers for ABCA13 Gene
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]
GeneCards Summary for ABCA13 Gene
ABCA13 (ATP Binding Cassette Subfamily A Member 13) is a Protein Coding gene. Diseases associated with ABCA13 include Schizophrenia and Stargardt Disease. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ATPase activity and cholesterol transporter activity. An important paralog of this gene is ABCA12.