ABCC6
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Multidrug resistance-associated protein 6 (MRP6) also known as ATP-binding cassette sub-family C member 6 (ABCC6) and multi-specific organic anion transporter E (MOAT-E) is a protein that in humans is encoded by the ABCC6 gene.[5][6][7] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.[5]
| ABCC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | ABCC6, ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, ATP binding cassette subfamily C member 6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 603234; MGI: 1351634; HomoloGene: 55559; GeneCards: ABCC6; OMA:ABCC6 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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 multidrug resistance.[8]
Pathology
Mutations in this protein cause pseudoxanthoma elasticum (PXE).[9] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.[10][11]
Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.[12]
Deficiency of Abcc6 in mouse models of ischemia leads to larger infarcts, which can be rescued by Abcc6 overexpression.[13]
