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PAFAH1B2 Gene

protein-coding   GIFtS: 60

GC11P116521
platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)
(Previous names: platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (30kD), platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa )
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)
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Aliases
EC 3.1.1.47 3
PAFAHB 3
Descriptions
PAF acetylhydrolase 30 kDa subunit 3
PAF-AH 30 kDa subunit 3
PAF-AH subunit beta 3
PAFAH subunit beta 3
intracellular platelet-activating factor acetylhydrolase
alpha 2 subunit 2
platelet-activating factor acetylhydrolase IB subunit beta 2
platelet-activating factor acetylhydrolase, isoform Ib,
beta subunit 2
platelet-activating factor acetylhydrolase, isoform Ib,
beta subunit (30kD) 1
platelet-activating factor acetylhydrolase, isoform Ib,
beta subunit 30kDa 1, 2
platelet-activating factor acetylhydrolase, isoform Ib,
subunit 2 (30kDa) 2
External Ids
HGNC: 85751
Entrez Gene: 50492
UniProtKB: P684023
Ensembl: ENSG000001680927
Search outside databases for aliases for PAFAH1B2 gene

Previous GC identifers: GC11P119367 GC11P118526 GC11P117048 GC11P116552

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for PAFAH1B2:
Platelet-activating factor (PAF) is a biologically active phospholipid with diverse biologic
effects. PAF is degraded to inactive products by hydrolysis of the acetyl group at the sn-2
position to produce the biologically inactive products LYSO-PAF and acetate. This reaction is
catalyzed by PAF acetylhydrolase (PAFAH). The various monomeric and multimeric forms of the enzyme
are composed of alpha (MIM 601545), beta, and gamma (MIM 603074) PAFAH subunits.[supplied by OMIM]

UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402
Function: Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic
subunit

Gene Wiki entry for PAFAH1B2

(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 PAFAH1B2 gene  

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23

PAFAH1B2 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 11         GeneLoc Exon Structure

GeneLoc location for GC11P116521:     (about GC identifiers)

Start:
116,520,250 bp from pter
End:
116,546,969 bp from pter
Size:
26,720 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000011.8  NT_033899.7  
(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: PA1B2_HUMAN, P68402 (See protein sequence)
Recommended Name: Platelet-activating factor acetylhydrolase IB subunit beta  
Size: 229 amino acids; 25569 Da
Subunit: Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29
kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas
the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic
activity
Subcellular location: Cytoplasm
PDB structure from and Proteopedia :
1VYH (3D)    1YVH (3D)    
Secondary accessions: O00687 Q29459

REFSEQ proteins: NP_002563.1  

ENSEMBL proteins: 
ENSP00000304006 


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 (PAFAH1B2)
Human Recombinant Proteins from Abnova (PAFAH1B2)
              OriGene Purified Recombinant Human Protein: PAFAH1B2 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm TAS16130169
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Antibodies for PAFAH1B2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PAFAH1B2
Browse R&D Systems for Antibodies
Antibodies from Abcam (PAFAH1B2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (PAFAH1B2)
Novus Biologicals Antibodies for PAFAH1B2

Assays for PAFAH1B2: 
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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3 InterPro domains/families:
 IPR013831 Esterase_SGNH_hydro-type_subgr
 IPR008265 Lipase_GDSL_AS
 IPR001087 Lipase_GDSL


   GeneDecks  PAFAH1B2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry P68402

ProtoNet protein and cluster: P68402

1 Blocks protein family: IPB001087 Lipolytic enzyme

UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402
Similarity: Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor
acetylhydrolase IB beta/gamma subunits subfamily

(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 (PAFAH1B2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002572

              Applied Biosystems Silencer® siRNAs for PAFAH1B2

              Sigma-Aldrich siRNA for PAFAH1B2  
                     Sigma-Aldrich shRNA for PAFAH1B2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for PAFAH1B2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002572
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_002572
                                 untagged cDNA clone in CMV expression vector: NM_002572 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_002572

UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402
Function: Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic
subunit
Catalytic activity: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O =
1-alkyl-sn-glycero-3-phosphocholine + acetate
Enzyme Number (IUBMB): EC 3.1.1.47 

Genatlas biochemistry entry for PAFAH1B2:
platelet activating factor acetylhydrolase,isoform 1b,beta subunit ,30kDa,maybe a contributor to
susceptibility to a progression of non familal dilated cardiomyopathy

3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pafah1b2):

embryogenesisendocrine/exocrine glandreproductive system

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA--
GO:0005515 protein binding IEA--
GO:0016788 hydrolase activity, acting on ester bonds IEA--
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(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 Sigma-Aldrich "Your Favorite Gene" Pathway for  PAFAH1B2  (Your Favorite Gene powered by Ingenuity) 
 Reelin Signaling in Neurons

   GeneDecks  PAFAH1B2 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for PAFAH1B2):
 hsa00565 Ether lipid metabolism

   GeneDecks  PAFAH1B2 for the pathways selected above  
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5/40 Interacting proteins for PAFAH1B2 (P684022 ENSP000003040063) via UniProtKB, MINT, and/or STRING (see all 40 )
InteractantInteraction Details
GeneCardExternal ID(s)
PAFAH1B3Q151022, ENSP000002628903MINT-66289 STRING (score=.99)
ACIN1Q9UKV32MINT-64008
ASF1AQ9Y2942MINT-64009
ENSG00000104637Q96BK52MINT-64006
PINX1Q96BK52MINT-64006
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007283 spermatogenesis IEA--
GO:0016042 lipid catabolic process 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 PAFAH1B2

(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 (PAFAH1B2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002572

              Sigma-Aldrich siRNA for PAFAH1B2  
                     Sigma-Aldrich shRNA for PAFAH1B2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_002572  

REFSEQ mRNAs for PAFAH1B2 gene: 

NM_002572.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_002572  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002572
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_002572
                                 untagged cDNA clone in CMV expression vector: NM_002572 

Additional cDNA sequence: 

AK292973.1 AK307366.1 BC000398.2 BC001774.1 BC010009.2 BC019301.1 BC021287.2 BC039721.1 
CR456736.1 CR603284.1 D63390.1 DQ836738.1 DQ836739.1 DQ836740.1 DQ836741.1 DQ836742.1 
DQ836743.1 

15 DOTS entries:

DT.91768988  DT.100038566  DT.95266783  DT.452268  DT.92050945  DT.102827219  DT.80100427  DT.75181504 
DT.120692847  DT.120692896  DT.100811053  DT.75191589  DT.91768975  DT.95316574  DT.95366431 

24/450 AceView cDNA sequences (see all 450 ):

AI224552 D25614 AI540046 AI150974 CB528508 BU071318 AW250168 BC019301 
AI720226 CF527839 CB068352 CB109041 AA504468 BQ649206 BM468611 BQ004130 
BU191112 AI491971 AI675635 BQ723691 BQ439170 AI674921 BU185475 AW054681 

highest scoring ESTs for PAFAH1B2:

BU678086 D63390 AA515489 AA806846 AI273312 AW054681 AW196932 AW887475 BQ350753 W70257 

Unigene Cluster for PAFAH1B2:

Platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)
Hs.718419  [show with all ESTs]
Unigene Representative Sequence: DQ836743


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000304808  
(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

PAFAH1B2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH1B2

1 / 2 / 3

8 probe-sets matching PAFAH1B2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

86906_at2, 3 U95-E 1 1.00 1.00 0.94 1.00 N99553 0.20 0.50 0.38 1

45271_at2, 3 U95-B 1 1.00 1.00 0.76 1.37 AA149543 0.40 0.67 0.55 1

32445_at2, 3 U95-A 2 1.00 0.94 0.23 0.64 D63390 0.80 0.80 0.80 1

224777_s_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

210160_at2, 3 U133-A 2 1.00 0.95 -- -- BC000398 0.60 0.75 0.68 1

224777_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1569431_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

210160_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCCGGCTCTT

SOURCE GeneReport for Unigene cluster: Hs.718419

Expression variation in blood from EXPOLDB for PAFAH1B2

UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402
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 PAFAH1B2 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PAFAH1B21   -- platelet-activating factor acetylhydrolase, isoform more 93.3(n)
99.56(a)
479425  XM_536562.2  XP_536562.2 
chimpanzee
(Pan troglodytes)
PAFAH1B21   -- platelet-activating factor acetylhydrolase, isoform more 99.35(n)
99.02(a)
451567  XM_508773.2  XP_508773.2 
cow
(Bos taurus)
PAFAH1B21   -- platelet-activating factor acetylhydrolase, isoform more 94.18(n)
100(a)
282514  NM_174664.2  NP_777089.1 
rat
(Rattus norvegicus)
Pafah1b21   -- platelet-activating factor acetylhydrolase, isoform more 91.41(n)
99.56(a)
64189  NM_022387.3  NP_071782.1 
mouse
(Mus musculus)
Pafah1b21, 5 95
platelet-activating factor acetylhydrolase, isoform more1, 5 91.27(n)1
99.56(a)1
184751  NM_008775.31  NP_032801.21 
 AI7474515  AI8469325  (see all 20)
About this table        Species with no ortholog for PAFAH1B2

ENSEMBL Gene Tree for PAFAH1B2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for PAFAH1B2 gene
PAFAH1B32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/185 NCBI SNPs in PAFAH1B2 are shown (see all 185 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 30)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 11 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs124188961,2
C,H116520041(+) TGGGGG/ATAACC 1 -- ng514Minor allele frequency- A:0.00EU EA WA 414
rs112163081,2
C,H116544444(+) TAGGAG/ACCCTG 1 -- ng314Minor allele frequency- A:0.00EU EA WA 416
rs26229341,2
A116520072(-) CACCCA/CGTTGG 1 -- ng51 tfbs30--------
rs18717571,2
A,C,F,H116535791(-) gcttgT/Aactct 1 -- int18Minor allele frequency- A:0.36EU EA WA NA NS 570
rs65896021,2
A,C,F,H116542275(+) TGTTGT/CATGAA 1 -- int13Minor allele frequency- C:0.46EU EA 296
--
rs49383471,2
A,C,F,H116526969(+) CAGATA/TTTTTT 1 -- int1 trp32Minor allele frequency- T:0.14EU NS 156
rs71125131,2
A,C,F,H116542571(+) ACAAGG/AAGACA 1 -- int14Minor allele frequency- A:0.24EU EA WA 394
rs21279051,2
A,C,F,H116531584(-) CAAAAG/TAAATC 1 -- int17Minor allele frequency- T:0.23EU EA WA NA 538
rs37361201,2
A,C,F,H116537335(-) TCAAGA/CAATGA 1 -- int15Minor allele frequency- C:0.48EU EA WA NS 450
--
rs49383491,2
A,C,F,H116527133(+) GGACTT/CATCAT 1 -- int18Minor allele frequency- C:0.47EU EA WA NA NS 598
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HapMap Linkage Disequilibrium images for PAFAH1B2 (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: 602508

Human Genome Epidemiology Navigator: PAFAH1B2 (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

10/15 PubMed articles for PAFAH1B2 gene (see all 15 ):
(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: 5049 HGNC: 8575 AceView: PAFAH1B2 Ensembl:ENSG00000168092 euGenes: HUgn5049
ECgene: PAFAH1B2 H-InvDB: PAFAH1B2
(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 PAFAH1B2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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 Predesigned and custom siRNAs for PAFAH1B2 Antibodies for PAFAH1B2
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for PAFAH1B2 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Antibodies (PAFAH1B2)
 Tagged/untagged cDNA clones
 Validated SYBR primer pairs
 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for PAFAH1B2




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for PAFAH1B2

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