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ABCC6
Identifiers
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
Gene location (Human) Chr. Chromosome 16 (human) Band 16p13.11 Start 16,149,565 bp End 16,223,522 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 29.64 cM|7 B3 Start 45,616,979 bp End 45,679,726 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver duodenum body of pancreas human kidney mucosa of transverse colon renal cortex upper lobe of left lung body of stomach right lung right adrenal cortex Top expressed in liver left lobe of liver yolk sac lamina propria of urinary bladder proximal tubule right kidney vein detrusor urinae muscle embryo jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity ATP binding ATPase-coupled inorganic anion transmembrane transporter activity transporter activity transmembrane transporter activity Cellular component endoplasmic reticulum membrane integral component of membrane basolateral plasma membrane endoplasmic reticulum membrane nucleus plasma membrane apical plasma membrane lateral plasma membrane vacuolar membrane Biological process response to stimulus visual perception transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 368 27421 Ensembl ENSG00000275331 ENSG00000091262 ENSMUSG00000030834 UniProt O95255 Q9R1S7 RefSeq (mRNA) NM_001079528 NM_001171 NM_001351800 NM_018795 RefSeq (protein) NP_001072996 NP_001162 NP_001338729 NP_061265 Location (UCSC) Chr 16: 16.15 – 16.22 Mb Chr 7: 45.62 – 45.68 Mb PubMed search
Wikidata
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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. The protein encoded by the ABCC6 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). This protein is a member of the MRP subfamily which is involved in multidrug resistance.

Pathology

Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.

Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.

Deficiency of Abcc6 in mouse models of ischemia leads to larger infarcts, which can be rescued by Abcc6 overexpression.

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. Abcc6 is primarily expressed in liver and kidney,.

References

1. ^ ENSG00000091262 GRCh38: Ensembl release 89: ENSG00000275331, ENSG00000091262 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000030834 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Kuss 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. PMID 9721217.
6. Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A (Jul 2001). "Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11". Hum Mutat. 18 (1): 85. doi:10.1002/humu.1157. PMID 11439001. S2CID 23970082.
7. "Entrez Gene: ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6".
8. O'Neill GM, Peters GB, Harvie RM, MacKenzie HB, Henness S, Davey RA (1998). "Amplification and expression of the ABC transporters ARA and MRP in a series of multidrug-resistant leukaemia cell sublines". Br. J. Cancer. 77 (12): 2076–80. doi:10.1038/bjc.1998.350. PMC 2150375. PMID 9649117.
9. 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. PMID 10835642. S2CID 8883528.
10. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD (2001). "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum". Am. J. Hum. Genet. 69 (4): 749–64. doi:10.1086/323704. PMC 1226061. PMID 11536079.
11. Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG (2007). "Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum". Journal of Medical Genetics. 44 (10): 621–8. doi:10.1136/jmg.2007.051094. PMC 2597973. PMID 17617515.
12. Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA (2002). "Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease". Circulation. 106 (7): 773–5. doi:10.1161/01.CIR.0000028420.27813.C0. PMID 12176944.
13. Mungrue IN, Zhao P, Yao Y, Meng H, Rau C, Havel JV, Gorgels TG, Bergen AA, MacLellan WR, Drake TA, Boström KI, Lusis AJ (2011). "Abcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model". Arterioscler Thromb Vasc Biol. 31 (12): 2806–12. doi:10.1161/ATVBAHA.111.237420. PMC 3227394. PMID 21979437.
14. Martin LJ, Lau E, Singh H, Vergnes L, Tarling EJ, Mehrabian M, Mungrue I, Xiao S, Shih D, Castellani L, Ping P, Reue K, Stefani E, Drake TA, Bostrom K, Lusis AJ (2012). "ABCC6 localizes to the mitochondria-associated membrane". Circulation Research. 111 (5): 516–20. doi:10.1161/CIRCRESAHA.112.276667. PMC 3540978. PMID 22811557.
15. Gorgels TG, Hu X, Scheffer GL, van der Wal AC, Toonstra J, de Jong PT, van Kuppevelt TH, Levelt CN, de Wolf A, Loves WJ, Scheper RJ, Peek R, Bergen AA (2005). "Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum". Human Molecular Genetics. 14 (13): 1763–73. doi:10.1093/hmg/ddi183. PMID 15888484.
16. De Vilder EY, Hosen MJ, Vanakker OM (2015). "The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders". BioMed Research International. 2015: 648569. doi:10.1155/2015/648569. PMC 4555454. PMID 26356190.

External links

• GeneReviews/NIH/NCBI/UW entry on Pseudoxanthoma Elasticum
• ABCC6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Membrane Topology Model of Human ABCC6 protein
• Human ABCC6 genome location and ABCC6 gene details page in the UCSC Genome Browser.

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