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Identification
HMDB Protein ID HMDBP01859
Secondary Accession Numbers
  • 7253
Name Multidrug resistance-associated protein 6
Synonyms
  1. ATP-binding cassette sub-family C member 6
  2. Anthracycline resistance-associated protein
  3. MOAT-E
  4. Multi-specific organic anion transporter E
Gene Name ABCC6
Protein Type Transporter
Biological Properties
General Function Involved in ATP binding
Specific Function 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)
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
membrane part
intrinsic to membrane
integral to membrane
Function
active transmembrane transporter activity
primary active transmembrane transporter activity
p-p-bond-hydrolysis-driven transmembrane transporter activity
atpase activity, coupled to transmembrane movement of substances
binding
nucleotide binding
catalytic activity
hydrolase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
transmembrane transporter activity
atpase activity
transporter activity
nucleoside-triphosphatase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
Process
establishment of localization
transport
transmembrane transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 16p13.1
SNPs ABCC6
Gene Sequence
>4512 bp
ATGGCCGCGCCTGCTGAGCCCTGCGCGGGGCAGGGGGTCTGGAACCAGACAGAGCCTGAA
CCTGCCGCCACCAGCCTGCTGAGCCTGTGCTTCCTGAGAACAGCAGGGGTCTGGGTACCC
CCCATGTACCTCTGGGTCCTTGGTCCCATCTACCTCCTCTTCATCCACCACCATGGCCGG
GGCTACCTCCGGATGTCCCCACTCTTCAAAGCCAAGATGGTGCTTGGATTCGCCCTCATA
GTCCTGTGTACCTCCAGCGTGGCTGTCGCTCTTTGGAAAATCCAACAGGGAACGCCTGAG
GCCCCAGAATTCCTCATTCATCCTACTGTGTGGCTCACCACGATGAGCTTCGCAGTGTTC
CTGATTCACACCGAGAGGAAAAAGGGAGTCCAGTCATCTGGAGTGCTGTTTGGTTACTGG
CTTCTCTGCTTTGTCTTGCCAGCTACCAACGCTGCCCAGCAGGCCTCCGGAGCGGGCTTC
CAGAGCGACCCTGTCCGCCACCTGTCCACCTACCTATGCCTGTCTCTGGTGGTGGCACAG
TTTGTGCTGTCCTGCCTGGCGGATCAACCCCCCTTCTTCCCTGAAGACCCCCAGCAGTCT
AACCCCTGTCCAGAGACTGGGGCAGCCTTCCCCTCCAAAGCCACGTTCTGGTGGGTTTCT
GGCCTGGTCTGGAGGGGATACAGGAGGCCACTGAGACCAAAAGACCTCTGGTCGCTTGGG
AGAGAAAACTCCTCAGAAGAACTTGTTTCCCGGCTTGAAAAGGAGTGGATGAGGAACCGC
AGTGCAGCCCGGAGGCACAACAAGGCAATAGCATTTAAAAGGAAAGGCGGCAGTGGCATG
AAGGCTCCAGAGACCGAGCCCTTCCTACGGCAAGAAGGGAGCCAGTGGCGCCCACTGCTG
AAGGCCATCTGGCAGGTGTTCCATTCTACCTTCCTCCTGGGGACCCTCAGCCTCATCATC
AGTGATGTCTTCAGGTTCACTGTCCCCAAGCTGCTCAGCCTTTTCCTGGAGTTTATTGGT
GATCCCAAGCCTCCAGCCTGGAAGGGCTACCTCCTCGCCGTGCTGATGTTCCTCTCAGCC
TGCCTGCAAACGCTGTTTGAGCAGCAGAACATGTACAGGCTCAAGGTGCTGCAGATGAGG
TTGCGGTCGGCCATCACTGGCCTGGTGTACAGAAAGGTCCTGGCTCTGTCCAGCGGCTCC
AGAAAGGCCAGTGCGGTGGGTGATGTGGTCAATCTGGTGTCCGTGGACGTGCAGCGGCTG
ACCGAGAGCGTCCTCTACCTCAACGGGCTGTGGCTGCCTCTCGTCTGGATCGTGGTCTGC
TTCGTCTATCTCTGGCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTG
AGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGAGGAGCAA
ATGAGGCAGAAGGACTCACGGGCACGGCTCACCAGCTCTATCCTCAGGAACTCGAAGACC
ATCAAGTTCCATGGCTGGGAGGGAGCCTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAG
GAGCTGGGCGCCTTGCGGACCTCCGGCCTCCTCTTCTCTGTGTCGCTGGTGTCCTTCCAA
GTGTCTACATTTCTGGTCGCACTGGTGGTGTTTGCTGTCCACACTCTGGTGGCCGAGAAT
GCTATGAATGCAGAGAAAGCCTTTGTGACTCTCACAGTTCTCAACATCCTCAACAAGGCC
CAGGCTTTCCTGCCCTTCTCCATCCACTCCCTCGTCCAGGCCCGGGTGTCCTTTGACCGT
CTGGTCACCTTCCTCTGCCTGGAAGAAGTTGACCCTGGTGTCGTAGACTCAAGTTCCTCT
GGAAGCGCTGCCGGGAAGGATTGCATCACCATACACAGTGCCACCTTCGCCTGGTCCCAG
GAAAGCCCTCCCTGCCTCCACAGAATAAACCTCACGGTGCCCCAGGGCTGTCTGCTGGCT
GTTGTCGGTCCAGTGGGGGCAGGGAAGTCCTCCCTGCTGTCCGCCCTCCTTGGGGAGCTG
TCAAAGGTGGAGGGGTTCGTGAGCATCGAGGGTGCTGTGGCCTACGTGCCCCAGGAGGCC
TGGGTGCAGAACACCTCTGTGGTAGAGAATGTGTGCTTCGGGCAGGAGCTGGACCCACCC
TGGCTGGAGAGAGTACTAGAAGCCTGTGCCCTGCAGCCAGATGTGGACAGCTTCCCTGAG
GGAATCCACACTTCAATTGGGGAGCAGGGCATGAATCTCTCCGGAGGCCAGAAGCAGCGG
CTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGTGTACCTGCTGGATGACCCCCTG
GCGGCCCTGGATGCCCACGTTGGCCAGCATGTCTTCAACCAGGTCATTGGGCCTGGTGGG
CTACTCCAGGGAACAACACGGATTCTCGTGACGCACGCACTCCACATCCTGCCCCAGGCT
GATTGGATCATAGTGCTGGCAAATGGGGCCATCGCAGAGATGGGTTCCTACCAGGAGCTT
CTGCAGAGGAAGGGGGCCCTCGTGTGTCTTCTGGATCAAGCCAGACAGCCAGGAGATAGA
GGAGAAGGAGAAACAGAACCTGGGACCAGCACCAAGGACCCCAGAGGCACCTCTGCAGGC
AGGAGGCCCGAGCTTAGACGCGAGAGGTCCATCAAGTCAGTCCCTGAGAAGGACCGTACC
ACTTCAGAAGCCCAGACAGAGGTTCCTCTGGATGACCCTGACAGGGCAGGATGGCCAGCA
GGAAAGGACAGCATCCAATACGGCAGGGTGAAGGCCACAGTGCACCTGGCCTACCTGCGT
GCCGTGGGCACCCCCCTCTGCCTCTACGCACTCTTCCTCTTCCTCTGCCAGCAAGTGGCC
TCCTTCTGCCGGGGCTACTGGCTGAGCCTGTGGGCGGACGACCCTGCAGTAGGTGGGCAG
CAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCCTCGGCTGTCTCCAAGCCATT
GGGCTGTTTGCCTCCATGGCTGCGGTGCTCCTAGGTGGGGCCCGGGCATCCAGGTTGCTC
TTCCAGAGGCTCCTGTGGGATGTGGTGCGATCTCCCATCAGCTTCTTTGAGCGGACACCC
ATTGGTCACCTGCTAAACCGCTTCTCCAAGGAGACAGACACGGTTGACGTGGACATTCCA
GACAAACTCCGGTCCCTGCTGATGTACGCCTTTGGACTCCTGGAGGTCAGCCTGGTGGTG
GCAGTGGCTACCCCACTGGCCACTGTGGCCATCCTGCCACTGTTTCTCCTCTACGCTGGG
TTTCAGAGCCTGTATGTGGTTAGCTCATGCCAGCTGAGACGCTTGGAGTCAGCCAGCTAC
TCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCAGCACAGTGGTCCGGGCATTC
CGAACCCAGGCCCCCTTTGTGGCTCAGAACAATGCTCGCGTAGATGAAAGCCAGAGGATC
AGTTTCCCGCGACTGGTGGCTGACAGGTGGCTTGCGGCCAATGTGGAGCTCCTGGGGAAT
GGCCTGGTGTTTGCAGCTGCCACGTGTGCTGTGCTGAGCAAAGCCCACCTCAGTGCTGGC
CTCGTGGGCTTCTCTGTCTCTGCTGCCCTCCAGGTGACCCAGACACTGCAGTGGGTTGTT
CGCAACTGGACAGACCTAGAGAACAGCATCGTGTCAGTGGAGCGGATGCAGGACTATGCC
TGGACGCCCAAGGAGGCTCCCTGGAGGCTGCCCACATGTGCAGCTCAGCCCCCCTGGCCT
CAGGGCGGGCAGATCGAGTTCCGGGACTTTGGGCTAAGATACCGACCTGAGCTCCCGCTG
GCTGTGCAGGGCGTGTCCTTCAAGATCCACGCAGGAGAGAAGGTGGGCATCGTTGGCAGG
ACCGGGGCAGGGAAGTCCTCCCTGGCCAGTGGGCTGCTGCGGCTCCAGGAGGCAGCTGAG
GGTGGGATCTGGATCGACGGGGTCCCCATTGCCCACGTGGGGCTGCACACACTGCGCTCC
AGGATCAGCATCATCCCCCAGGACCCCATCCTGTTCCCTGGCTCTCTGCGGATGAACCTC
GACCTGCTGCAGGAGCACTCGGACGAGGCTATCTGGGCAGCCCTGGAGACGGTGCAGCTC
AAAGCCTTGGTGGCCAGCCTGCCCGGCCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAG
GACCTGAGCGTGGGCCAGAAACAGCTCCTGTGTCTGGCACGTGCCCTTCTCCGGAAGACC
CAGATCCTCATCCTGGACGAGGCTACTGCTGCCGTGGACCCTGGCACGGAGCTGCAGATG
CAGGCCATGCTCGGGAGCTGGTTTGCACAGTGCACTGTGCTGCTCATTGCCCACCGCCTG
CGCTCCGTGATGGACTGTGCCCGGGTTCTGGTCATGGACAAGGGGCAGGTGGCAGAGAGC
GGCAGCCCGGCCCAGCTGCTGGCCCAGAAGGGCCTGTTTTACAGACTGGCCCAGGAGTCA
GGCCTGGTCTGA
Protein Properties
Number of Residues 1503
Molecular Weight 164904.8
Theoretical pI 8.6
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 32-52
  • 73-93
  • 99-119
  • 132-149
  • 168-188
  • 303-323
  • 350-370
  • 427-447
  • 451-471
  • 534-554
  • 576-596
  • 940-960
  • 998-1018
  • 1062-1082
  • 1084-1104
  • 1176-1196
  • 1199-1219
Protein Sequence
>Multidrug resistance-associated protein 6
MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGR
GYLRMSPLFKAKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVF
LIHTERKKGVQSSGVLFGYWLLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQ
FVLSCLADQPPFFPEDPQQSNPCPETGAAFPSKATFWWVSGLVWRGYRRPLRPKDLWSLG
RENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGMKAPETEPFLRQEGSQWRPLL
KAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGYLLAVLMFLSA
CLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRL
TESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQ
MRQKDSRARLTSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQ
VSTFLVALVVFAVHTLVAENAMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDR
LVTFLCLEEVDPGVVDSSSSGSAAGKDCITIHSATFAWSQESPPCLHRINLTVPQGCLLA
VVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEAWVQNTSVVENVCFGQELDPP
WLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRKAAVYLLDDPL
AALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQEL
LQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRT
TSEAQTEVPLDDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVA
SFCRGYWLSLWADDPAVGGQQTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLL
FQRLLWDVVRSPISFFERTPIGHLLNRFSKETDTVDVDIPDKLRSLLMYAFGLLEVSLVV
AVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGSTVVRAF
RTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCAVLSKAHLSAG
LVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWP
QGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAE
GGIWIDGVPIAHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQL
KALVASLPGQLQYKCADRGEDLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQM
QAMLGSWFAQCTVLLIAHRLRSVMDCARVLVMDKGQVAESGSPAQLLAQKGLFYRLAQES
GLV
GenBank ID Protein 190343023
UniProtKB/Swiss-Prot ID O95255
UniProtKB/Swiss-Prot Entry Name MRP6_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_001171.5
GeneCard ID ABCC6
GenAtlas ID ABCC6
HGNC ID HGNC:57
References
General References
  1. Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed:17924679 ]
  2. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  3. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. [PubMed:15616553 ]
  4. Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S, Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T, Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008 Nov 6;456(7218):66-72. doi: 10.1038/nature07485. [PubMed:18987736 ]
  5. Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics. 1999 Sep 15;60(3):295-308. [PubMed:10493829 ]
  6. 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: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):223-7. [PubMed:10835642 ]
  7. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A. 2000 May 23;97(11):6001-6. [PubMed:10811882 ]
  8. Kool M, van der Linden M, de Haas M, Baas F, Borst P: Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. Cancer Res. 1999 Jan 1;59(1):175-82. [PubMed:9892204 ]
  9. Belinsky MG, Kruh GD: MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver. Br J Cancer. 1999 Jul;80(9):1342-9. [PubMed:10424734 ]
  10. Ilias A, Urban Z, Seidl TL, Le Saux O, Sinko E, Boyd CD, Sarkadi B, Varadi A: Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). J Biol Chem. 2002 May 10;277(19):16860-7. Epub 2002 Mar 5. [PubMed:11880368 ]
  11. Uitto J, Pulkkinen L, Ringpfeil F: Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? Trends Mol Med. 2001 Jan;7(1):13-7. [PubMed:11427982 ]
  12. Sinko E, Ilias A, Ujhelly O, Homolya L, Scheffer GL, Bergen AA, Sarkadi B, Varadi A: Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. Biochem Biophys Res Commun. 2003 Aug 22;308(2):263-9. [PubMed:12901863 ]
  13. Germain DP, Perdu J, Remones V, Jeunemaitre X: Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. Biochem Biophys Res Commun. 2000 Aug 2;274(2):297-301. [PubMed:10913334 ]
  14. Germain DP, Remones V, Perdu J, Jeunemaitre X: Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction? Hum Mutat. 2000 Nov;16(5):449. [PubMed:11058917 ]
  15. Struk B, Cai L, Zach S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K: Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl). 2000;78(5):282-6. [PubMed:10954200 ]
  16. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Goring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. [PubMed:11536079 ]
  17. Pulkkinen L, Nakano A, Ringpfeil F, Uitto J: Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum Genet. 2001 Sep;109(3):356-65. [PubMed:11702217 ]
  18. Wang J, Near S, Young K, Connelly PW, Hegele RA: ABCC6 gene polymorphism associated with variation in plasma lipoproteins. J Hum Genet. 2001;46(12):699-705. [PubMed:11776382 ]