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 terminalis, generalized, with or without gingival hyperplasia. Among its related pathways are ABC-family proteins mediated transport. GO annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA4.
UniProtKB/Swiss-Prot for ABCA5 Gene
May play a role in the processing of autolysosomes.