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 ABCC6gene.[5][6][7] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.[5]
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]
Location
Abcc6 gene encodes an intracellular transporter associated with mitochondrial function, located in the mitochondrial-associated membrane (MAM), whereas its substrate can be located in either MAM, cytosol or ER.[14]
Abcc6 is primarily expressed in liver and kidney,.[15][16]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ abKuss BJ, O'Neill GM, Eyre H, Doggett NA, Callen DF, Davey RA (Oct 1998). "ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors". Genomics. 51 (3): 455–8. doi:10.1006/geno.1998.5349. PMID9721217.
^Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD (2000). "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum". Nat. Genet. 25 (2): 223–7. doi:10.1038/76102. PMID10835642. S2CID8883528.
