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ABCB6 Gene

protein-coding   GIFtS: 60

GC02M219782
ATP-binding cassette, sub-family B (MDR/TAP), member 6
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ABC 2
ABC14 2
EST45597 1, 2
FLJ22414 2
MTABC3 1, 2, 3, 5
PRP 2, 3
UMAT 3
umat 1, 2
Descriptions
ATP-binding cassette half-transporter 2
ATP-binding cassette, sub-family B (MDR/TAP), member 6 2
ATP-binding cassette, sub-family B, member 6 2
Mitochondrial ABC transporter 3 3
Mt-ABC transporter 3 3
P-glycoprotein-related protein 3
Ubiquitously-expressed mammalian ABC half transporter 3
External Ids
HGNC: 471
Entrez Gene: 100582
UniProtKB: Q9NP583
Ensembl: ENSG000001156577
Search outside databases for aliases for ABCB6 gene

Previous GC identifers: GC02M218090 GC02M218795 GC02M220038 GC02M220277 GC02M219899

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCB6:
The membrane-associated 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). This protein is a member of the MDR/TAP subfamily. Members of the
MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This
half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is
considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial
function. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the
mitochondria. Plays a crucial role in heme synthesis

Gene Wiki entry for ABCB6

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCB6 gene  

Entrez Gene cytogenetic band: 2q36   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q36

ABCB6 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 2         GeneLoc Exon Structure

GeneLoc location for GC02M219782:     (about GC identifiers)

Start:
219,782,738 bp from pter
End:
219,791,917 bp from pter
Size:
9,180 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(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: ABCB6_HUMAN, Q9NP58 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 6, mitochondrial  
Size: 842 amino acids; 93886 Da
Subunit: Homodimer
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein
Developmental stage: Highly expressed in fetal liver
Miscellaneous: Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances
porphyrin biosynthesis
Sequence caution: Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp;
Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Secondary accessions: O75542 Q49A66 Q59GQ5 Q6ZME6 Q96ME8 Q9HAQ6 Q9HAQ7
Alternative splicing: 2 isoforms:  Q9NP58-1   Q9NP58-4   

REFSEQ proteins: NP_005680.1  

ENSEMBL proteins: 
ENSP00000265316 ENSP00000295750 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (ABCB6)
Human Recombinant Proteins from Abnova (ABCB6)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IDA10837493
GO:0005740 mitochondrial envelope IDA10837493
GO:0005741 mitochondrial outer membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
About this table

Antibodies for ABCB6: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (ABCB6), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ABCB6)
Novus Biologicals Antibody for ABCB6

Assays for ABCB6: 
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)
About This Section

5 InterPro domains/families:
 IPR003593 ATPase_AAA+_core
 IPR003439 ABC_transporter-like
 IPR017940 ABC_transporter_type1
 IPR001140 ABC_TM_transpt
 IPR017871 ABC_transporter_CS


   GeneDecks  ABCB6 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9NP58

ProtoNet protein and cluster: Q9NP58

UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
Similarity: Belongs to the ABC transporter family. Heavy Metal importer (TC 3.A.1.210) subfamily
Similarity: Contains 1 ABC transmembrane type-1 domain
Similarity: Contains 1 ABC transporter domain

(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.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ABCB6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB6)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005689

              Applied Biosystems Silencer® siRNAs for ABCB6

              Sigma-Aldrich siRNA and siRNA Panels for ABCB6  
                     Sigma-Aldrich shRNA for ABCB6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005689
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005689
                                 untagged cDNA clone in CMV expression vector: NM_005689 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005689

UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the
mitochondria. Plays a crucial role in heme synthesis
Induction: Up-regulated by cellular porphyrins (at protein level)

Genatlas biochemistry entry for ABCB6:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 6

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0005524 ATP binding IDA10837493
GO:0016887 ATPase activity IEA--
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA--
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.)
About This Section


1 Kegg Pathway  (Kegg details for ABCB6):
 hsa02010 ABC transporters

   GeneDecks  ABCB6 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  ABCB6 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IDA10837493
GO:0006879 cellular iron ion homeostasis NAS11977179
About this table
(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 ABCB6
3 Novoseek chemical compound relationships for ABCB6 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
iron 13.28 6 10837493 (3), 11977179 (2)
atp 10.23 3 11955620 (2), 16618113 (1)
lipid 0.00 2 13678819 (1), 16162093 (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 (ABCB6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB6)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005689

              Sigma-Aldrich siRNA and siRNA Panels for ABCB6  
                     Sigma-Aldrich shRNA for ABCB6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005689  

REFSEQ mRNAs for ABCB6 gene: 

NM_005689.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005689  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005689
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005689
                                 untagged cDNA clone in CMV expression vector: NM_005689 

Additional cDNA sequence: 

AF070598.1 AF076775.1 AF308472.1 AJ289233.2 AK026067.1 AK057026.1 AK172812.1 AK303230.1 
BC000559.2 BC043423.1 CR609962.1 U66673.1 

17 DOTS entries:

DT.87046556  DT.100702442  DT.100836568  DT.121017494  DT.100776774  DT.101985085  DT.211669  DT.100650765 
DT.95178118  DT.100644208  DT.100776777  DT.92438261  DT.100776776  DT.100776779  DT.121017511  DT.95178121 
DT.91673332 

24/190 AceView cDNA sequences (see all 190 ):

BM678300 AW205829 W79936 CA441997 AW450832 BM970614 BU628545 BU753914 
BU739042 CB156337 AI201831 CF529046 BM676624 BE743584 AF076775 CA429310 
BQ006982 BM720321 AF070598 BX348255 BM701547 BE262425 BG519710 BC043423 

highest scoring ESTs for ABCB6:

AF070598 AF308472 AJ289233 AK057026 AL530678 BC000559 BE260438 BE261802 BE314828 BE560171 

Unigene Cluster for ABCB6:

ATP-binding cassette, sub-family B (MDR/TAP), member 6
Hs.107911  [show with all ESTs]
Unigene Representative Sequence: BC043423


GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB6 (see all 10 )

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1:                                            -           -     -                 -                                                     -                     
SP2:                    -                       -           -     -                 -                                                     -                     
SP3:                                                                                                                                      -                     
SP4:                                                                                                                                                            
SP5:                          -     -           -           -     -                                                                                             

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
SP1:              -                                 
SP2:              -                                 
SP3:              -                                 
SP4:                                                
SP5:                                                

About this scheme

ECgene alternative splicing isoforms for ABCB6

2 Ensembl transcripts including schematic representations:
ENST00000265316  ENST00000295750  
(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 )
About This Section

ABCB6 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ABCB6

1 / 2 / 3

3 probe-sets matching ABCB6 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
39805_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF070598 0.80 0.88 0.84 1

203192_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005689 0.60 0.83 0.73 1

203192_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  ABCB6 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GAACGGTGAC

SOURCE GeneReport for Unigene cluster: Hs.107911

Expression variation in blood from EXPOLDB for ABCB6

UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58
Tissue specificity: Widely expressed. Highest expression in heart and skeletal muscles

(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 ABCB6 gene from 5/13 species (see all 13 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ABCB61   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 89.61(n)
89.13(a)
478914  XM_536073.2  XP_536073.2 
chimpanzee
(Pan troglodytes)
ABCB61   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 99.49(n)
99.64(a)
459959  XM_001161097.1  XP_001161097.1 
cow
(Bos taurus)
ABCB61   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 88.52(n)
89.39(a)
783257  XM_001251071.1  XP_001251072.1 
rat
(Rattus norvegicus)
Abcb61   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 86.75(n)
88.38(a)
140669  NM_080582.1  NP_542149.1 
mouse
(Mus musculus)
Abcb61, 5 15
ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 86.87(n)1
89.38(a)1
741041  NM_023732.21  NP_076221.11 
 AF0455625  AI8431025  (see all 24)
About this table        Species with no ortholog for ABCB6

ENSEMBL Gene Tree for ABCB6
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ABCB6 gene
ABCB72  

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


10/44 NCBI SNPs in ABCB6 are shown (see all 44 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 47)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 2 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs11098671,2
A,C,F,H219791697(+) GGACTT/GGTCAC 1 -- ut51 ese312Minor allele frequency- G:0.21MN EU EA WA NA 1074
rs134029641,2
C,F,H219785378(+) CTATTC/TGGATG 1 R/Q mis1 ese38Minor allele frequency- T:0.28EU EA WA 832
rs130184401,2
H219789423(+) AGTCAG/CCAAGT 1 V/L mis1 ese34Minor allele frequency- C:0.00EU EA WA 402
rs130184271,2
H219789400(+) AGAGAG/TTTCCA 1 N/K mis14Minor allele frequency- T:0.00EU EA WA 406
rs130180991,2
H219789372(+) GAAGAC/AGTAAC 1 F/V mis1 ese34Minor allele frequency- A:0.00EU EA WA 406
rs130184261,2
H219789392(+) TCCAGG/CCCAGA 1 G/A mis14Minor allele frequency- C:0.00EU EA WA 406
rs11098661,2
A,C,F,H219791523(+) GTCCCT/CAGAGC 1 L/L syn111Minor allele frequency- C:0.20MN EU EA WA NA 980
--
rs67277701,2
H219783686(+) TCCAGC/GAGAAT 1 L/L syn1 ese34Minor allele frequency- G:0.00EU EA WA 420
rs22930801,2
C,F,H219787025(+) TCTTGG/ACCCTG 1 -- int15Minor allele frequency- A:0.01EA EU WA 1916
rs92885421,2
C,H219786307(+) CACCAC/TCCATG 1 -- int14Minor allele frequency- T:0.00EU EA WA 418
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HapMap Linkage Disequilibrium images for ABCB6 (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: 605452

4 Novoseek disease relationships for ABCB6 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
adrenoleukodystrophy 73.44 3 8876235 (1), 9587057 (1)
cystic fibrosis 28.73 1 12369999 (1)
breast cancer 25.01 3 14618629 (1), 11205902 (1), 12369999 (1)
cancer 3.80 2 16842198 (1), 16024622 (1)
About this table

Genetic Association Database: ABCB6
Human Genome Epidemiology Navigator: ABCB6 (2 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)
About This Section

10/42 PubMed articles for ABCB6 gene (see all 42 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
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)
About This Section

Entrez Gene: 10058 HGNC: 47 AceView: ABCB6 Ensembl:ENSG00000115657 euGenes: HUgn10058
ECgene: ABCB6 H-InvDB: ABCB6
(According to HUGE)
About This Section

  --
(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

NameDescription
ATLAS Chromosomes in Cancer entry for ABCB6 Genetics and Cytogenetics in Oncology and Haematology
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(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 ABCB6:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
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 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
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 Predesigned and custom siRNAs for ABCB6 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ABCB6 Browse small molecules at Sigma-Aldrich
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 Antibodies for ABCB6

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