Aliases for ABCC6 Gene
- ATP Binding Cassette Subfamily C Member 6 2 3 5
- ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 2 3
- Anthracycline Resistance-Associated Protein 3 4
- Multi-Specific Organic Anion Transporter E 3 4
- ATP-Binding Cassette Sub-Family C Member 6 3 4
- MOAT-E 3 4
- MRP6 3 4
- ARA 3 4
- Multidrug Resistance-Associated Protein 6 3
- Pseudoxanthoma Elasticum 2
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 Subfamily C 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 Regulation of activated PAK-2p34 by proteasome mediated degradation and Glucose / Energy Metabolism. 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 ABCC3.
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.