Aliases for ABCC6 Gene
External Ids for ABCC6 Gene
Previous HGNC Symbols for ABCC6 Gene
Previous GeneCards Identifiers for ABCC6 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCC6 Gene
ABCC6 (ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6) is a Protein Coding gene. Diseases associated with ABCC6 include pseudoxanthoma elasticum and arterial calcification, generalized, of infancy, 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCC5.
UniProtKB/Swiss-Prot for ABCC6 Gene
Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).
Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.