ABCC6 Gene
protein-coding GIFtS: 66
GCID: GC16M016243
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|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6(Previous name: pseudoxanthoma elasticum )
(Previous symbols: ARA, PXE)
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Aliases
for ABCC6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 61 2 | | MOAT-E2 3 | | ARA1 2 3 5 | | ATP-Binding Cassette Sub-Family C Member 62 3 | | MRP61 2 3 | | ABC342 5 | | MLP11 2 5 | | Pseudoxanthoma Elasticum1 | | PXE1 2 5 | | GACI22 | | EST3490561 2 | | MOATE2 | | URG71 2 | | PXE12 | | Anthracycline Resistance-Associated Protein2 3 | | Multidrug Resistance-Associated Protein 62 | | Multi-Specific Organic Anion Transporter E2 3 | | |
Export aliases for ABCC6 gene to outside databasesPrevious GC identifers: GC16M016071 GC16M015526 GC16M016210 GC16M016151 GC16M015637 |
Summaries
for ABCC6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ABCC6:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABCproteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into sevendistinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRPsubfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternativelyspliced transcript variants that encode different proteins have been described for this gene. (provided by RefSeq, Jul2008)
UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255Function: May participate directly in the active transport of drugs into subcellular organelles or influence drugdistribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione(NEM-GS)
Gene Wiki entry for ABCC6
|
Genomic Views
for ABCC6 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ABCC6 gene promoter:
GR Elk-1 AML1a Sp1 Lmo2 GATA-1 c-Ets-1 GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for ABCC6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p13.1 Ensembl cytogenetic band: 16p13.11 HGNC cytogenetic band: 16p13.11ABCC6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M016243: view genomic region
(about GC identifiers)
Start:
|
16,242,785 bp from pter |
End:
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16,317,379 bp from pter |
Size:
|
74,595 bases |
Orientation:
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minus strand |
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Proteins
for ABCC6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255 (See
protein sequence)Recommended Name: Multidrug resistance-associated protein 6 Size: 1503 amino acids; 164906 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Note=Localized to the basolateral membrane
Sequence caution: Sequence=AAC15785.1; Type=Erroneous gene model prediction;
Secondary accessions: P78420 Q9UMZ7Explore the universe of human proteins at neXtProt for ABCC6: NX_O95255
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95255
ABCC6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001072996.1 NP_001162.4
ENSEMBL proteins: ENSP00000205557 ENSP00000405002 ENSP00000459243 ENSP00000461686 Reactome Protein details: O95255
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
ABCC6 for ontologies About GeneDecksing
ABCC6 Antibody Products:
Assay Products for ABCC6: |
Protein
Domains /
Families
for ABCC6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ABCC6 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry O95255ProtoNet protein and cluster: O95255 UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255Similarity: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamilySimilarity: Contains 2 ABC transmembrane type-1 domainsSimilarity: Contains 2 ABC transporter domains |
Function
for ABCC6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255Function: May participate directly in the active transport of drugs into subcellular organelles or influence drugdistribution 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
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ABCC6 (NM_001079528) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCC6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCC6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC6 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
ABCC6 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ABCC6:
Animal Models:
Mouse knock-outs for ABCC6: Abcc6tm1Jfk Abcc6tm1Aabb
6 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Abcc6):
ABCC6 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ABCC6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | ABC-family proteins mediated transport | | | 2 | SLC-mediated transmembrane transport | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Reactome Pathways for ABCC6
1 
Kegg Pathway (Kegg details for ABCC6):
ABCC6 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCC6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/7 Interacting proteins for ABCC6 (O952553 ENSP000002055574) via UniProtKB, MINT, STRING, and/or I2D (see all 7)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
ABCC6 for ontologies About GeneDecksing
|
Drugs & Compounds
for ABCC6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ABCC6 for compounds About GeneDecksing
 Browse Tocris compounds for ABCC6
10/11 DrugBank Compounds for ABCC6 (see all 11) About this table
9 Novoseek chemical compound relationships for ABCC6 gene About this table
2 PharmGKB related drug/compound annotations for ABCC6 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about ABCC6 / MRP6
|
Transcripts
for ABCC6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ABCC6 gene (2 alternative transcripts): NM_001079528.3 NM_001171.5 Unigene Cluster for ABCC6: ATP-binding cassette, sub-family C (CFTR/MRP), member 6 Hs.442182 [show with all ESTs]Unigene Representative Sequence: NM_0011717 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000205557(uc002den.4 uc010bvo.3) ENST00000576204 ENST00000456970
ENST00000576683 ENST00000574094(uc010uzz.1) ENST00000577103 ENST00000575728(uc002deo.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ABCC6 (NM_001079528) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCC6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCC6 |
Additional cDNA sequence: AF076622.1 AF168791.1 AK298295.1 AM774324.1 AY078405.1 BC050733.1 BC131732.1 U66689.1 6 DOTS entries: DT.100748629 DT.112058 DT.100836282 DT.97770455 DT.100889165 DT.453296 14 AceView cDNA sequences: AI830055 AI631807 AW235625 BX283084 BC015978 BI830076 BV203038 R99091 BQ181437 BF334136 R99635 AI935444 BF105026 H94400
GeneLoc Exon Structure
|
Expression
for ABCC6 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ABCC6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGACTCTTG
About this image
See ABCC6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCC6
SOURCE GeneReport for Unigene cluster: Hs.442182
UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255Tissue specificity: Expressed in kidney and liver. Very low expression in other tissues
SABiosciences Custom PCR Arrays for ABCC6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCC6
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat ABCC6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCC6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCC6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC6 |
Orthologs
for ABCC6 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCC6 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for ABCC6 (if available)
TreeFam Gene Tree for ABCC6 (if available) |
Paralogs
for ABCC6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ABCC6 gene
- ABCC42 ABCC122 ABCC12 ABCC102 CFTR2 ABCC82 ABCC52 ABCC32
- ABCC22 ABCC112 ABCC92
18/21 SIMAP similar genes for ABCC6 using alignment to 6 protein entries: MRP6_HUMAN (see all proteins)
(see all similar genes):URG7 ara ABCB4 TAP1 DKFZp781G125 ABCC1
DKFZp434I2115 NG-TRA MRP3 ABCC3 ABCC2 CFTR
MRP MOAT-B ABCC4 ABCC9 ABCC12 ABCC5
ABCC6 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for ABCC6
PGOHUM00000262274 PGOHUM00000249003
|
Genomic Variants
for ABCC6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ABCC6 (16242785 - 16317379 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for ABCC6
5 CNVs: 47993 3993 72485 7089 2204
Human Gene Mutation Database (HGMD): ABCC6
Locus Specific Mutation Databases (LSDB): ABCC6
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC6 |
|
Disorders
/ Diseases
for ABCC6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ABCC6 for disorders About GeneDecksing
OMIM gene information: 603234
OMIM 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 characterizedby calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxityand loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is causedin the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomalrecessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthomaelasticum phenotype (autosomal dominant PXE) Defects in ABCC6 are the cause of arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473].GACI2 is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina ofmuscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 monthsof life because of myocardial ischemia resulting in refractory heart failure
20/45  diseases for ABCC6 (see all 45): About MalaCardspseudoxanthoma elasticum, forme fruste elastosis perforans serpiginosa angioid streaks dubin-johnson syndrome
arterial calcification of infancy generalized arterial calcification of infancy arterial calcification connective tissue disease
cutis laxa abdominal aortic aneurysm familial mediterranean fever aortic aneurysm
coronary heart disease primary biliary cirrhosis retinal drusen metabolic disorders
myocardial infarction acute myocardial infarction acute lymphoblastic leukemia macular degeneration
4 diseases from the University of Copenhagen DISEASES database for ABCC6:Pseudoxanthoma elasticum Angioid streaks Generalized arterial calcification of infancy Dubin-Johnson syndrome 10/15 Novoseek disease relationships for ABCC6 gene (see all 15) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pseudoxanthoma elasticum |
98.8 |
98 |
11536079 (2), 15459974 (2), 16604369 (2), 11439001 (2) (see all 69) |
| angioid streaks |
90.5 |
5 |
19284998 (1), 17134037 (1), 12271376 (1), 14694786 (1) |
| heritable connective tissue disorder |
88.2 |
3 |
15086542 (1), 16571645 (1), 16374464 (1) |
| genetic disorder |
72.8 |
8 |
15459974 (1), 19891925 (1), 15760889 (1), 12810839 (1) (see all 7) |
| calcification |
69.2 |
15 |
18469514 (1), 16763870 (1), 16543900 (1), 16261549 (1) (see all 11) |
| metabolic disorder |
50.2 |
6 |
18469514 (1), 17134037 (1), 11493310 (1), 15894595 (1) (see all 5) |
| connective tissue diseases |
45.8 |
3 |
14667841 (1), 19341707 (1) |
| choroidal neovascularization |
41.1 |
1 |
17134037 (1) |
| coronary artery disease |
4.8 |
5 |
12176944 (2), 14631379 (1), 19929409 (1), 16854481 (1) |
| leukemia |
0 |
4 |
9721217 (3), 9892204 (1) |
GeneTests: ABCC6
Pseudoxanthoma Elasticum
Genetic Association Database (GAD): ABCC6
Human Genome Epidemiology (HuGE) Navigator: ABCC6 (20 documents)
Export disorders for ABCC6 gene to outside databases
|
Publications
for ABCC6 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ABCC6 gene, integrated from 9 sources (see all 170):
(articles sorted by number of sources associating them with ABCC6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Loss of ATP-dependent transport activity in pseudoxanthoma elasticum- associated mutants of human ABCC6 (MRP6). (PubMed id 11880368)1, 2, 7, 9 Ilias A.... Varadi A. (2002)
- ABCC6 gene polymorphism associated with variation in plasma lipoproteins. (PubMed id 11776382)1, 2, 4, 9 Wang J.... Hegele R.A. (2001)
- Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. (PubMed id 9892204)1, 2, 9 Kool M.... Borst P. (1999)
- Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. (PubMed id 12901863)1, 2, 9 Sinko E.... Varadi A. (2003)
- Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. (PubMed id 11702217)1, 2, 9 Pulkkinen L.... Uitto J. (2001)
- Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. (PubMed id 17617515)1, 2, 9 Pfendner E.G....Bercovitch L.G. (2007)
- 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, 3, 9 Kuss B.J....Davey R.A. (1998)
- Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. (PubMed id 19339160)1, 2, 9 Ramsay M....Viljoen D. (2009)
- A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PubMed id 11536079)1, 2, 9 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, 3, 9 Meloni I....Renieri A. (2001)
|
External Searches for ABCC6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ABCC6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ABCC6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCC6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ABCC6 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for ABCC6 | Genetics and Cytogenetics in Oncology and Haematology | | Mutations of the ABCC6 gene | http://www.retina-international.org/files/sci-news/abcc6mut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC6 | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255 |
|
| | |
About This Section
| Patent Information for ABCC6 gene:
Search GeneIP for patents involving ABCC6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ABCC6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
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| | |  | OriGene Antibodies for ABCC6 | | OriGene shRNA RFP for ABCC6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCC6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ABCC6 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ABCC6 | | OriGene 3'-UTR Clone for ABCC6 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABCC6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ABCC6 | | OriGene Custom Protein Services for ABCC6 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCC6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCC6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCC6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCC6 |
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| | | | Search Tocris compounds for ABCC6 |
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 | | | ABCC6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC6 |
|  |  |  | | | | ThermoFisher Antibodies for ABCC6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCC6 |
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