Aliases for ABCA5 Gene
External Ids for ABCA5 Gene
Previous GeneCards Identifiers for ABCA5 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCA5 Gene
ABCA5 (ATP Binding Cassette Subfamily A Member 5) is a Protein Coding gene. Diseases associated with ABCA5 include Hypertrichosis, Congenital Generalized, With Or Without Gingival Hyperplasia and Lysosomal Disease. 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 ABCA8.
UniProtKB/Swiss-Prot Summary for ABCA5 Gene
May play a role in the processing of autolysosomes.