Aliases for ABCC5 Gene
External Ids for ABCC5 Gene
Previous GeneCards Identifiers for ABCC5 Gene
The 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 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 MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for ABCC5 Gene
ABCC5 (ATP Binding Cassette Subfamily C Member 5) is a Protein Coding gene. Diseases associated with ABCC5 include Primary Angle-Closure Glaucoma and Episodic Kinesigenic Dyskinesia 1. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include ATPase activity and organic anion transmembrane transporter activity. An important paralog of this gene is ABCC12.
UniProtKB/Swiss-Prot Summary for ABCC5 Gene
Acts as a multispecific organic anion pump which can transport nucleotide analogs. Heme transporter required for the translocation of cytosolic heme to the secretory pathway (PubMed:24836561).