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ABCC6 Gene

protein-coding GIFtS: 65

GC16M016151

ATP-binding cassette, sub-family C (CFTR/MRP), member 6
(Previous name: pseudoxanthoma elasticum )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ARA, PXE)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ABC34 ^², ⁵
ARA ^², ³, ⁵
EST349056 ^¹, ²
MLP1 ^¹, ², ⁵
MOAT-E ^³
MOATE ^²
MRP6 ^¹, ², ³
PXE ^², ⁵
PXE1 ^²

Descriptions
ATP-binding cassette sub-family C member 6 ^³
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ^²
ATP-binding cassette, sub-family C, member 6 ^²
Anthracycline resistance-associated protein ^², ³
Multi-specific organic anion transporter E ^³
pseudoxanthoma elasticum ^¹

External Ids
HGNC: 57¹
Entrez Gene: 368²
UniProtKB: O95255³
Ensembl: ENSG00000091262⁷

Search outside databases for aliases for ABCC6 gene

Previous GC identifers: GC16M016071 GC16M015526 GC16M016210

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ABCC6:

The protein encoded by this 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance.

Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants

that encode different proteins have been described for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255

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)

Gene Wiki entry for ABCC6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCC6 gene

Entrez Gene cytogenetic band: 16p13.1 Ensembl cytogenetic band: 16p13.11 HGNC cytogenetic band: 16p13.1

ABCC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M016151: (about GC identifiers)

Start:	16,150,923 bp from pter
End:	16,224,838 bp from pter
Size:	73,916 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000016.8 NT_010393.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255 (See protein sequence)

Recommended Name: Multidrug resistance-associated protein 6

Size: 1503 amino acids; 164904 Da

Subcellular location: Membrane; Multi-pass membrane protein (By similarity)

Sequence caution: Sequence=AAC15785.1; Type=Erroneous gene model prediction;

Secondary accessions: P78420 Q9UMZ7

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001072996.1 NP_001162.4

ENSEMBL proteins:

ENSP00000205558 ENSP00000205557

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for ABCC6
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (MRP6)
	Human Recombinant Proteins from Abnova (ABCC6)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	10835642
GO:0016021	integral to membrane	IEA	--

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Antibodies for ABCC6:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ABCC6
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (MRP6), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCC6)
	Novus Biologicals Antibodies for ABCC6

Assays for ABCC6:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry O95255

ProtoNet protein and cluster: O95255

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255

Similarity: Belongs to the ABC transporter family. Conjugate transporter (TC 3.A.1.208) subfamily

Similarity: Contains 2 ABC transmembrane type-1 domains

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCC6)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCC6)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001079528

Applied Biosystems Silencer® siRNAs for ABCC6

Sigma-Aldrich siRNA and siRNA Panels for ABCC6

Sigma-Aldrich shRNA Panels and shRNA for ABCC6

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ABCC6
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079528
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079528
untagged cDNA clones in CMV expression vector (see all 3): NM_001079528

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001171

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255

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)

Genatlas biochemistry entry for ABCC6:

ATP binding cassette superfamily,subfamily C (CFTR/MRP),member 6,expressed in normal hematopoietic

precursors

7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abcc6):

	homeostasis/metabolism	other	renal/urinary system	skin/coat/nails
touch/vibrissae	vision/eye

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005215	transporter activity	TAS	8912525
GO:0005524	ATP binding	TAS	8912525
GO:0016887	ATPase activity	IEA	--
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	8912525

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for ABCC6 (Your Favorite Gene powered by Ingenuity)

Purine Metabolism

GeneDecks ABCC6 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ABCC6

3 Interacting proteins for ABCC6 (ENSP00000205557³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MRPS7	ENSP00000245539³	STRING (score=.795)
IGKV3D-15	ENSP00000374809³	STRING (score=.748)
CD79A	ENSP00000221972³	STRING (score=.706)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	8912525
GO:0007601	visual perception	IEA	--
GO:0042493	response to drug	TAS	8912525
GO:0050896	response to stimulus	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCC6
3 Novoseek chemical compound relationships for ABCC6 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	22.16	15	15894595 (2), 11880368 (2), 10913334 (1), 17617515 (1) (see all 5)
lipid	0.00	1	16835894 (1)
agarose	0.00	1	15727254 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCC6)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCC6)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001079528

Sigma-Aldrich siRNA and siRNA Panels for ABCC6

Sigma-Aldrich shRNA Panels and shRNA for ABCC6

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001079528 NM_001171

REFSEQ mRNAs for ABCC6 gene (2 alternative transcripts):

NM_001079528.3 NM_001171.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001079528 NM_001171

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079528
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079528
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001079528

Additional cDNA sequence:

AF076622.1 AF168791.1 AK298295.1 AM774324.1 AY078405.1 BC050733.1 BC131732.1 CR609146.1

U66689.1

6 DOTS entries:

DT.112058 DT.100748629 DT.100836282 DT.97770455 DT.100889165 DT.453296

14 AceView cDNA sequences:

AI830055 AI631807 BX283084 R99091 BI830076 AW235625 BV203038 BC015978

BF334136 R99635 BQ181437 AI935444 BF105026 H94400

highest scoring ESTs for ABCC6:

AF076622 AF168791 AL596779 BC050733 BU187020 H49232 H49806 N95104 R97754 U66689

Unigene Cluster for ABCC6:

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Hs.442182 [show with all ESTs]

Unigene Representative Sequence: NM_001171

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000205558 ENST00000205557

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ABCC6 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCC6

¹ / ² / ³

8 probe-sets matching ABCC6 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
964_at²^{, 3}	U95-A	2	1.00	0.97	0.77	1.22	X95715	0.60	1.00	0.82	1
39247_at²^{, 3}	U95-A	2	1.00	0.50	0.96	0.86	U66689	1.00	0.80	0.91	1
208480_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001171	0.60	1.00	0.82	1
215559_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI074459	0.40	1.00	0.76	1
214033_at²^{, 3}	U133-A	2	1.00	0.55	--	--	AI084637	0.60	1.00	0.82	1
208480_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215559_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214033_at²	U133Plus2	2	1.00	0.55	--	--	--	--	--	--	--

GeneDecks ABCC6 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAGACTCTTG

SOURCE GeneReport for Unigene cluster: Hs.442182
Expression variation in blood from EXPOLDB for ABCC6
UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
Tissue specificity: Expressed in kidney and liver. Very low expression in other tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCC6 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCC6¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	83.43(n) 79.57(a)	489993 XM_547113.2 XP_547113.2
rat (Rattus norvegicus)	Abcc6¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	80.82(n) 79.61(a)	81642 NM_031013.1 NP_112275.1
mouse (Mus musculus)	Abcc6^{1, 5}	7 (24.50 cM)⁵	ATP-binding cassette, sub-family C (CFTR/MRP), member more^{1, 5}	80.95(n)¹ 79.62(a)¹	27421¹ NM_018795.1¹ NP_061265.1¹ AB028737⁵ BC040400⁵ (see all 9)
chicken (Gallus gallus)	ABCC6¹	--	ATP-binding cassette, sub-family C (CFTR/MRP), member more	59.94(n) 54.72(a)	416600 XM_001234743.1 XP_001234744.1
worm (Caenorhabditis elegans)	C18C4.2³	V(5541395-5548247)	trans-membrane protein	23(a)	--

About this table Species with no ortholog for ABCC6

ENSEMBL Gene Tree for ABCC6

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ABCC6 gene

ABCC3² ABCC1² ABCC2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/817 NCBI SNPs in ABCC6 are shown (see all 817 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 141)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2238472^1,2	A,C,F,H,O	16159100(-)	`GTTCCG/AGGACT`	1	Q/R	mis¹		16		EA NA EU WA	1414
	rs8058694^1,2	A,C,F,H	16186364(+)	`GCACTG/TTGTAT`	1	H/Q	mis¹ ese³		12		EU EA WA NA	1192
	rs12931472^1,2	A,C,F,H	16188508(+)	`CTACGA/GCACCA`	1	V/A	mis¹		12		EA NA EU WA	1056
	rs6416668^1,2	A,C,F,H	16178858(+)	`ACACAC/TGAGGG`	1	V/M	mis¹ ese³		11		EU EA WA NA	978
	rs3902401^1,2	A,C,F	16151474(+)	`GGGTAC/TGGTTG`	1	--	ut3¹		6		EA NA MN	662
--	rs212096^1,2	A,C	16151176(+)	`ctagcC/Tgggag`	1	--	ut3¹		0	--	--	--	--
	rs4341770^1,2	C,H	16184238(+)	`CCCCCA/GCTGGA`	1	V/A	mis¹ ese³		4		EU EA WA	406
--	rs41278174^1,2	C	16167097(+)	`GGACCA/GGAGTT`	1	R/W	mis¹		0	--	--	--	--
--	rs11861980^1,2	H	16174734(+)	`GGTACG/CGTCCT`	1	G/R	mis¹ ese³		4		EU EA WA	416
--	rs9930886^1,2	A,C,F,H	16199484(+)	`ACCAGA/GTTGAC`	1	N/N	syn¹		4		EU EA WA	408

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HapMap Linkage Disequilibrium images for ABCC6 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603234 disorders: 264800 177850

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255

Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. PXE is a

disorder characterized by calcification of elastic fibers in skin, arteries and retina that

results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency

and retinal hemorrhages leading to macular degeneration. PXE is caused in the overwhelming

majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal

recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the

pseudoxanthoma elasticum phenotype (autosomal dominant PXE)

10/14 Novoseek disease relationships for ABCC6 gene (see all 14 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudoxanthoma elasticum	98.70	90	11536079 (2), 15459974 (2), 16604369 (2), 11439001 (2) (see all 63)
angioid streaks	89.30	5	19284998 (1), 17134037 (1), 12271376 (1), 14694786 (1)
heritable connective tissue disorder	89.12	3	15086542 (1), 16571645 (1), 16374464 (1)
genetic disorder	71.26	7	15459974 (1), 15760889 (1), 12810839 (1), 11702217 (1) (see all 6)
calcification	66.59	14	18469514 (1), 16763870 (1), 16543900 (1), 16261549 (1) (see all 10)
connective tissue diseases	48.09	3	14667841 (1), 19341707 (1)
metabolic disorder	44.69	6	18469514 (1), 17134037 (1), 11493310 (1), 15894595 (1) (see all 5)
choroidal neovascularization	23.88	1	17134037 (1)
coronary artery disease	0.19	4	12176944 (2), 14631379 (1), 16854481 (1)
cancer	0.00	1	9892204 (1)

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GeneTests: ABCC6

Pseudoxanthoma Elasticum

Human Gene Mutation Database: ABCC6
Genetic Association Database: ABCC6
Human Genome Epidemiology Navigator: ABCC6 (13 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/144 PubMed articles for ABCC6 gene (see all 144 ):

ABCC6 gene polymorphism associated with variation in plasma lipoproteins. (PubMed id 11776382)^{1, 3, 4, 6} Wang J.... Hegele R.A. (2001)
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum- associated mutants of human ABCC6 (MRP6). (PubMed id 11880368)^{1, 3, 4} Ilias A.... Varadi A. (2002)
Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. (PubMed id 9892204)^{1, 3, 4} Kool M.... Borst P. (1999)
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. (PubMed id 11702217)^{1, 3, 4} Pulkkinen L.... Uitto J. (2001)
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. (PubMed id 9721217)^{1, 2, 3} Kuss B.J....Davey R.A. (1998)
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PubMed id 11536079)^{1, 3, 4} Le Saux O.... Boyd C.D. (2001)
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. (PubMed id 11439001)^{1, 2, 3} Meloni I....Renieri A. (2001)
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. (PubMed id 10811882)^{1, 3, 4} Ringpfeil F.... Uitto J. (2000)
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. (PubMed id 12176944)^{1, 3, 6} Trip M.D....Bergen A.A. (2002)
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing. (PubMed id 10913334)^{1, 3, 4} Germain D.P.... Jeunemaitre X. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 368	HGNC: 57	AceView: ABCC6.1	Ensembl:ENSG00000091262	euGenes: HUgn368
ECgene: ABCC6	H-InvDB: ABCC6

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for ABCC6	Genetics and Cytogenetics in Oncology and Haematology
Mutations of the ABCC6 gene	http://www.retina-international.com/sci-news/abcc6mut.htm
GeneReviews	http://www.genetests.org/query?gene=ABCC6

Licensable Technologies for ABCC6
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCC6:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCC6-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ABCC6		Antibodies for ABCC6
	Explore super-pooled esiRNAs		Proteins for ABCC6
	Lentivirus-delivered shRNAs for ABCC6		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ABCC6)
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Antibodies for ABCC6

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ABCC6 Gene at Home site.
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ABCC6 Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for ABCC6

Summaries
for ABCC6

Genomic Location
for ABCC6

Proteins
for ABCC6

Protein Domains/
Families
for ABCC6

Gene Function
for ABCC6

Pathways & Interactions
for ABCC6

Drugs & Compounds
for ABCC6

Transcripts
for ABCC6

Expression
for ABCC6

Orthologs
for ABCC6

Paralogs
for ABCC6

SNPs/Variants
for ABCC6

Disorders & Mutations
for ABCC6

Medical News
for ABCC6

Publications
for ABCC6

Search for ABCC6

Genome Databases showing ABCC6

Other Databases showing ABCC6

Specialized Databases showing ABCC6

Licensable Technologies
for ABCC6

Services
for ABCC6

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCC6 Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor ABCC6

Summariesfor ABCC6

Genomic Locationfor ABCC6

Proteinsfor ABCC6

Protein Domains/Familiesfor ABCC6

Gene Functionfor ABCC6

Pathways & Interactionsfor ABCC6

Drugs & Compoundsfor ABCC6

Transcriptsfor ABCC6

Expression for ABCC6

Orthologsfor ABCC6

Paralogsfor ABCC6

SNPs/Variantsfor ABCC6

Disorders & Mutationsfor ABCC6

Medical Newsfor ABCC6

Publicationsfor ABCC6

Search for ABCC6

Genome Databases showing ABCC6

Other Databases showing ABCC6

Specialized Databases showing ABCC6

Licensable Technologiesfor ABCC6

Servicesfor ABCC6

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCC6

Summaries
for ABCC6

Genomic Location
for ABCC6

Proteins
for ABCC6

Protein Domains/
Families
for ABCC6

Gene Function
for ABCC6

Pathways & Interactions
for ABCC6

Drugs & Compounds
for ABCC6

Transcripts
for ABCC6

Expression
for ABCC6

Orthologs
for ABCC6

Paralogs
for ABCC6

SNPs/Variants
for ABCC6

Disorders & Mutations
for ABCC6

Medical News
for ABCC6

Publications
for ABCC6

Licensable Technologies
for ABCC6

Services
for ABCC6