ABCC6
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| ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | ABCC6; ABC34; ARA; EST349056; MLP1; MOATE; MRP6; PXE; PXE1; URG7 | ||||||||||||
| External IDs | OMIM: 603234 MGI: 1351634 HomoloGene: 55559 GeneCards: ABCC6 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 368 | 27421 | |||||||||||
| Ensembl | ENSG00000091262 | ENSMUSG00000030834 | |||||||||||
| UniProt | O95255 | Q9R1S7 | |||||||||||
| RefSeq (mRNA) | NM_001079528.3 | NM_018795.2 | |||||||||||
| RefSeq (protein) | NP_001072996.1 | NP_061265.2 | |||||||||||
| Location (UCSC) | Chr 16: 16.24 – 16.32 Mb |
Chr 7: 53.23 – 53.29 Mb |
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| PubMed search | [1] | [2] | |||||||||||
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.[1][2][3] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.[1]
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.[4]
Pathology
Mutations in this protein cause pseudoxanthoma elasticum (PXE).[5] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.[6][7]
Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.[8]
References
- ^ a b 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.
- ^ 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.
- ^ "Entrez Gene: ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=368.
- ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2150375.
- ^ 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.
- ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226061.
- ^ 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. doi:10.1136/jmg.2007.051094. PMC 2597973. PMID 17617515. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2597973.
- ^ 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.
External links
- GeneReviews/NIH/NCBI/UW entry on Pseudoxanthoma Elasticum
- MeSH ABCC6+protein,+human
- Membrane Topology Model of Human ABCC6 protein
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