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
- MOAT-E 3 4
- MRP6 3 4
- ARA 3 4
- ATP-Binding Cassette Sub-Family C Member 6 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 CDK-mediated phosphorylation and removal of Cdc6 and Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling. Gene Ontology (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 ABCC1.
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.