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ABCB8 Gene

protein-coding   GIFtS: 57

GC07P150356
ATP-binding cassette, sub-family B (MDR/TAP), member 8
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
EST328128 1, 2
M-ABC1 1, 2, 3
MABC1 1, 2, 3, 5
Descriptions
ATP-binding cassette, sub-family B (MDR/TAP), member 8 2
ATP-binding cassette, sub-family B, member 8 2
Mitochondrial ATP-binding cassette 1 3
mitochondrial ABC protein 2
External Ids
HGNC: 491
Entrez Gene: 111942
UniProtKB: Q9NUT23
Ensembl: ENSG000001971507
Search outside databases for aliases for ABCB8 gene

Previous GC identifers: GC07P148972 GC07P150040 GC07P150117 GC07P150164

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

EntrezGene summary for ABCB8:
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. The
function of this half-transporter has not yet been determined; however, it may involve the
compartmentalization and transport of heme, as well as peptides, from the mitochondria to the
nucleus and cytosol. This protein may also play a role in the transport of phospholipids into
mitochondrial membranes. [provided by RefSeq]

Gene Wiki entry for ABCB8
(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 ABCB8 gene  

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q35-q36

ABCB8 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 7         GeneLoc Exon Structure

GeneLoc location for GC07P150356:     (about GC identifiers)

Start:
150,356,443 bp from pter
End:
150,375,802 bp from pter
Size:
19,360 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 150,055,049-150,074,408     
RefSeq DNA sequence:
NC_000007.12  NT_007914.14  NT_079596.2  
(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: ABCB8_HUMAN, Q9NUT2 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 8, mitochondrial precursor  
Size: 735 amino acids; 79989 Da
Subunit: Monomer (Potential)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: B2RBL8 O95787 Q53GM0
Alternative splicing: 2 isoforms:  Q9NUT2-1   Q9NUT2-2   

REFSEQ proteins: NP_009119.2  

ENSEMBL proteins: 
ENSP00000297504 ENSP00000351717 ENSP00000353867 ENSP00000348353 


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 (ABCB8)
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005624 membrane fraction TAS9878413
GO:0005739 mitochondrion IEA--
GO:0005740 mitochondrial envelope TAS9878413
GO:0005743 mitochondrial inner membrane IEA--
GO:0016020 membrane IEA--
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Antibodies for ABCB8: 
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 (ABCB8), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for ABCB8

Assays for ABCB8: 
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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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  ABCB8 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9NUT2

ProtoNet protein and cluster: Q9NUT2

UniProtKB/Swiss-Prot: ABCB8_HUMAN, Q9NUT2
Similarity: Belongs to the ABC transporter family. Multidrug resistance exporter (TC 3.A.1.201)
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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ABCB8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007188

              Applied Biosystems Silencer® siRNAs for ABCB8

              Sigma-Aldrich siRNA and siRNA Panels for ABCB8  
                     Sigma-Aldrich shRNA for ABCB8  
                     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_007188
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_007188
                                 untagged cDNA clone in CMV expression vector: NM_007188 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_007188

Genatlas biochemistry entry for ABCB8:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 8,ubiquitously expressed,located in
mitochondrial inner membrane

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0005215 transporter activity TAS9878413
GO:0005524 ATP binding TAS9878413
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.)
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1 Kegg Pathway  (Kegg details for ABCB8):
 hsa02010 ABC transporters

   GeneDecks  ABCB8 for the pathways selected above  
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5/16 Interacting proteins for ABCB8 (Q9NUT22 ENSP000002975043) via UniProtKB, MINT, and/or STRING (see all 16 )
InteractantInteraction Details
GeneCardExternal ID(s)
C4orf14Q8NC602MINT-65638
SAT1P216732MINT-63584
ABCF2ENSP000002223883STRING (score=.963)
ABCB10ENSP000003556373STRING (score=.94)
ABCB9ENSP000002805603STRING (score=.93)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport TAS9878413
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 ABCB8

(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 (ABCB8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCB8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007188

              Sigma-Aldrich siRNA and siRNA Panels for ABCB8  
                     Sigma-Aldrich shRNA for ABCB8  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_007188  

REFSEQ mRNAs for ABCB8 gene: 

NM_007188.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_007188  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_007188
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_007188
                                 untagged cDNA clone in CMV expression vector: NM_007188 

Additional cDNA sequence: 

AF047690.1 AF086382.1 AK002018.1 AK024401.1 AK094005.1 AK094636.1 AK222911.1 AK294344.1 
AK310796.1 AK314721.1 AL117497.1 BC141814.1 BC141836.1 BC151235.1 CR592221.1 CR595185.1 
CR599833.1 CR610778.1 CR616094.1 U66688.1 

22 DOTS entries:

DT.100795794  DT.310230  DT.101984506  DT.112092  DT.100795799  DT.91750226  DT.100795798  DT.100028068 
DT.121101666  DT.95376252  DT.100795797  DT.92426830  DT.121101698  DT.100795791  DT.102831874  DT.121101754 
DT.102831873  DT.121101669  DT.121101676  DT.121101685  DT.121101688  DT.92051112 

24/204 AceView cDNA sequences (see all 204 ):

CR595185 BM976848 BM703142 BM704396 BQ223720 CA944727 AA309016 BE384965 
CA395398 BU155892 BQ718758 AK126885 AK094636 BU625433 AF195024 CR616094 
BQ676865 AW960651 BC030282 AF195025 AK128129 BM552265 CA454776 CR592221 

highest scoring ESTs for ABCB8:

U66688 AA116009 AA190206 AA309016 AA719140 AF047690 AI083583 AI168486 AI420480 AI656922 

Unigene Cluster for ABCB8:

ATP-binding cassette, sub-family B (MDR/TAP), member 8
Hs.647118  [show with all ESTs]
Unigene Representative Sequence: NM_007188


GeneLoc Exon Structure

5/27 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB8 (see all 27 )

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b · 7c ^
SP1:                          -     -     -     -     -     -           -     -     -     -     -     -     -                                                   
SP2:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -                                 
SP3:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -                                                   
SP4:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                     
SP5:                                                                                                                                                            

ExUns: 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^
SP1:                                                        -     -     -     -                 -                                                               
SP2:                                                        -     -     -     -                 -                                                               
SP3:                                                        -     -     -     -                 -                                                               
SP4:                                                        -     -     -     -                 -                                                               
SP5:                                                                                                                                                            

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
SP1:                                                                              
SP2:                                                                              
SP3:                                                                              
SP4:                                                                              
SP5:                                                              -               

About this scheme

ECgene alternative splicing isoforms for ABCB8

4 Ensembl transcripts including schematic representations:
ENST00000297504  ENST00000358849  ENST00000360651  ENST00000356058  
(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

ABCB8 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ABCB8

1 / 2 / 3

6 probe-sets matching ABCB8 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
57629_at2, 3 U95-C 1 1.00 1.00 0.99 1.35 AA917637 0.40 0.50 0.45 1

37496_at2, 3 U95-A 1 1.00 1.00 -0.41 0.66 U66688 1.00 0.90 0.95 1

206317_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_007188 0.60 0.83 0.73 1

229539_at2, 3 U133-B 1 1.00 1.00 -- -- AW665395 0.20 0.50 0.38 1

206317_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

229539_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  ABCB8 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.647118

Expression variation in blood from EXPOLDB for ABCB8

UniProtKB/Swiss-Prot: ABCB8_HUMAN, Q9NUT2
Tissue specificity: Ubiquitous

(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 ABCB8 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ABCB81   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 86.12(n)
87.52(a)
482800  XM_539916.2  XP_539916.2 
chimpanzee
(Pan troglodytes)
ABCB81   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 99.31(n)
99.4(a)
463892  XM_519524.2  XP_519524.2 
rat
(Rattus norvegicus)
Abcb81   -- ATP-binding cassette, sub-family B (MDR/TAP), member more 82.96(n)
83.33(a)
362302  NM_001007796.1  NP_001007797.1 
mouse
(Mus musculus)
Abcb81, 5 55
ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 82.89(n)1
84.38(a)1
746101  NM_029020.21  NP_083296.21 
 AA4098955  AA5445565  (see all 32)
zebrafish
(Danio rerio)
Dr.184752   -- Transcribed sequence with moderate similarity to protein more 74.02(n)  BG303035.1 
About this table        Species with no ortholog for ABCB8

ENSEMBL Gene Tree for ABCB8
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ABCB8 gene
TAP22  ENSG000001683942  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/99 NCBI SNPs in ABCB8 are shown (see all 99 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 37)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs175457561,2
C,F,H150363745(+) TGTCTC/TGCCAG 1 R/C mis1 ese311Minor allele frequency- T:0.02NA EU EA WA 978
rs41488441,2
C,F,H150361932(+) TAGCCG/ATCGTG 1 I/V mis1 ese38Minor allele frequency- A:0.07EU EA WA 816
rs8915061,2
C,F,H150373633(+) GTTCCC/ACGAGA 1 -- ut314Minor allele frequency- A:0.18EA NA WA 178
--
rs21160231,2
A,C150355736(+) gagacA/Gtttgt 1 -- ng510--------
--
rs23739271,2
A,C150355344(-) cttccG/Tcagtg 1 -- ng510--------
--
rs41488541,2
C150374753(+) GTGATA/GCAGTG 1 -- ut310--------
--
rs41488531,2
C150373918(+) ACCCCA/GGGACC 1 -- ut310--------
rs23039271,2
H150370042(+) AGCTTC/GCGATG 1 S/C mis1 ese35Minor allele frequency- G:0.01EA EU WA 1910
rs23039261,2
A,C,F150363958(+) GTGCGT/AGCCTT 1 R/R syn1 ese38Minor allele frequency- A:0.30EA NA 1972
--
rs41488501,2
A,C,F,H150369557(+) AGCCTA/GTAGTG 1 -- int14Minor allele frequency- G:0.24EU EA WA 412
About this table

HapMap Linkage Disequilibrium images for ABCB8 (up to first 250kb)

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

OMIM: 605464

Human Genome Epidemiology Navigator: ABCB8 (1 document)

(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

10/14 PubMed articles for ABCB8 gene (see all 14 ):
(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: 11194 HGNC: 49 AceView: ACCN3andABCB8 Ensembl:ENSG00000197150 euGenes: HUgn11194
ECgene: ABCB8 H-InvDB: ABCB8
(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

  --
(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 ABCB8:
 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 ABCB8-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 ABCB8 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ABCB8 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Search Novus for antibodies for ABCB8

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ABCB8 Gene at Home site.
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