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ACAT2 Gene

protein-coding   GIFtS: 66

GC06P160153
acetyl-Coenzyme A acetyltransferase 2
(Previous name: acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) )
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
ACTL 3
EC 2.3.1.9 3
OTTHUMP00000017527 2
Descriptions
Acetyl-CoA transferase-like protein 3
Cytosolic acetoacetyl-CoA thiolase 2, 3
acetoacetyl Coenzyme A thiolase 2
acetyl-Coenzyme A acetyltransferase 2 2
acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme
A thiolase) 1
External Ids
HGNC: 941
Entrez Gene: 392
UniProtKB: Q9BWD13
Ensembl: ENSG000001204377
Search outside databases for aliases for ACAT2 gene

Previous GC identifers: GC06P159622 GC06P160056 GC06P160015 GC06P160092

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

EntrezGene summary for ACAT2:
The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic
acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the
TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as
in opposite transcriptional orientation. [provided by RefSeq]

(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 ACAT2 gene  

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3-q26

ACAT2 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 6         GeneLoc Exon Structure

GeneLoc location for GC06P160153:     (about GC identifiers)

Start:
160,102,979 bp from pter
End:
160,120,077 bp from pter
Size:
17,099 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000006.10  NT_007422.13  
(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: THIC_HUMAN, Q9BWD1 (See protein sequence)
Recommended Name: Acetyl-CoA acetyltransferase, cytosolic  
Size: 397 amino acids; 41351 Da
Subunit: Homotetramer
Subcellular location: Cytoplasm
PDB structure from and Proteopedia :
1WL4 (3D)    1WL5 (3D)    
Secondary accessions: Q16146 Q5TCL7 Q8TDM4

REFSEQ proteins: NP_005882.2  

ENSEMBL proteins: 
ENSP00000356015 


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 (ACAT2)
Human Recombinant Proteins from Abnova (ACAT2)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm TAS7911016
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Antibodies for ACAT2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ACAT2
Browse R&D Systems for Antibodies
Antibodies from Abcam (ACAT2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ACAT2)
Novus Biologicals Antibodies for ACAT2

Assays for ACAT2: 
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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2 InterPro domains/families:
 IPR002155 Thiolase
 IPR016038 Thiolase-like_subgr


   GeneDecks  ACAT2 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9BWD1

ProtoNet protein and cluster: Q9BWD1

1 Blocks protein family: IPB002155 Thiolase

UniProtKB/Swiss-Prot: THIC_HUMAN, Q9BWD1
Similarity: Belongs to the thiolase family

(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 (ACAT2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ACAT2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005891

              Applied Biosystems Silencer® siRNAs for ACAT2

              Sigma-Aldrich siRNA and siRNA Panels for ACAT2  
                     Sigma-Aldrich shRNA for ACAT2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ACAT2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005891
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005891
                                 untagged cDNA clone in CMV expression vector: NM_005891 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005891

UniProtKB/Swiss-Prot: THIC_HUMAN, Q9BWD1
Catalytic activity: 2 acetyl-CoA = CoA + acetoacetyl-CoA
Enzyme Number (IUBMB): EC 2.3.1.9 

Genatlas biochemistry entry for ACAT2:
acetoacetyl-CoA thiolase 2,cytosolic,overlapping in opposite orientation,the 3' region of t complex
1 (TCP1)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003985 acetyl-CoA C-acetyltransferase activity IEA--
GO:0005515 protein binding IPI17353931
GO:0008415 acyltransferase activity IEA--
GO:0016740 transferase activity 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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5 Invitrogen iPath™ Online BioAtlas - Pathways for ACAT2 (Maps provided by GeneGo):
 Tryptophan metabolism
 Cholesterol metabolism I Cholesterol Biosynthesis
 Propionate metabolism. Part II
 Leucine and lysine metabolism
 Ketone bodies metabolism

   GeneDecks  ACAT2 for the pathways selected above  
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5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for  ACAT2  (Your Favorite Gene powered by Ingenuity) (see all 8
 Butanoate Metabolism
 Pyruvate Metabolism
 Valine, Leucine and Isoleucine Degradation
 Fatty Acid Metabolism
 Tryptophan Metabolism

   GeneDecks  ACAT2 for the pathways selected above  
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5/9 Kegg Pathways  (Kegg details for ACAT2) (see all 9 ):
 hsa00071 Fatty acid metabolism
 hsa00072 Synthesis and degradation of ketone bodies
 hsa00280 Valine, leucine and isoleucine degradation
 hsa00310 Lysine degradation
 hsa00380 Tryptophan metabolism

   GeneDecks  ACAT2 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  ACAT2 


5/36 Interacting proteins for ACAT2 (ENSP000003560153 Q9BWD11) via UniProtKB, MINT, and/or STRING (see all 36 )
InteractantInteraction Details
GeneCardExternal ID(s)
GNASP630921EBI-1047273, EBI-1047114
HADHENSP000002651683STRING (score=.956)
AACSENSP000003248423STRING (score=.955)
ACSS1ENSP000003169243STRING (score=.946)
ACSS2ENSP000003638253STRING (score=.946)
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006629 lipid metabolic process TAS7911016
GO:0008152 metabolic 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

Enzo Life Sciences drugs & compounds for ACAT2
Browse Small Molecules at Sigma-Aldrich

Compounds for ACAT2 available from Tocris Bioscience
CompoundAction CAS number
CI 976Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor[114289-47-3]
VULM 1457Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor[228544-65-8]
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4 Novoseek chemical compound relationships for ACAT2 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
acetoacetyl coa 88.40 8 9607396 (2), 9380443 (2), 8812443 (1), 15733928 (1) (see all 5)
acetyl-coa 65.09 2 11283790 (1), 10353914 (1)
cholesterol 34.06 10 15451793 (4), 17438337 (3), 18340009 (2), 16331323 (1)
lipid 0.00 1 10353914 (1)
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1 PharmGKB drug compound relationship for ACAT2 gene
Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
clozapinePD  15121641
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 (ACAT2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ACAT2)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005891

              Sigma-Aldrich siRNA and siRNA Panels for ACAT2  
                     Sigma-Aldrich shRNA for ACAT2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005891  

REFSEQ mRNAs for ACAT2 gene: 

NM_005891.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005891  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005891
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005891
                                 untagged cDNA clone in CMV expression vector: NM_005891 

Additional cDNA sequence: 

AB208993.1 AF356877.1 AK225089.1 AK225244.1 AK291080.1 AK294273.1 BC000408.2 CR590182.1 
CR592880.1 CR602774.1 CR603383.1 CR605843.1 CR616356.1 CR617627.1 S70154.1 

24/34 DOTS entries (see all 34 ):

DT.99989299  DT.121326816  DT.100828792  DT.100759125  DT.87079575  DT.100884457  DT.86852813  DT.121326761 
DT.91782029  DT.75133091  DT.100764164  DT.100884461  DT.100884486  DT.91782027  DT.119861  DT.121326756 
DT.121326882  DT.121326906  DT.91782015  DT.100031509  DT.100031512  DT.102839912  DT.121326956  DT.121327003 

24/438 AceView cDNA sequences (see all 438 ):

BM549699 BQ648344 BF128856 BQ718511 BU149746 AA341050 BQ050667 BF795373 
BI756309 CR602774 BQ677567 BQ050939 BQ684278 CB109303 D20985 BQ680061 
F06359 CR592880 BQ676524 BM760441 BM905050 CR605843 BE796920 BE794798 

highest scoring ESTs for ACAT2:

AA262195 AK055001 BE748830 BF306004 BG108319 BG163370 BG742275 BQ644991 BQ651311 BQ679097 

Unigene Cluster for ACAT2:

Acetyl-Coenzyme A acetyltransferase 2
Hs.571037  [show with all ESTs]
Unigene Representative Sequence: AK294273


GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ACAT2 (see all 11 )

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8a · 8b ^ 9
SP1:              -     -     -     -                       -           -     -                                                         
SP2:              -     -     -     -                       -           -                                                               
SP3:                                                        -           -     -                                                         
SP4:                                                        -           -     -                                                         
SP5:                                                        -           -     -                                                         

About this scheme

ECgene alternative splicing isoforms for ACAT2

1 Ensembl transcript including schematic representation:
ENST00000367048  
(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

ACAT2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ACAT2

1 / 2 / 3

3 probe-sets matching ACAT2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
34790_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 S70154 0.80 1.00 0.91 1

209608_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC000408 0.60 0.75 0.68 1

209608_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  ACAT2 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: TCCAAGCTAA

SOURCE GeneReport for Unigene cluster: Hs.571037

Expression variation in blood from EXPOLDB for ACAT2

(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 ACAT2 gene from 5/11 species (see all 11 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ACAT21   -- acetyl-Coenzyme A acetyltransferase 2 89(n)
89.95(a)
484063  XM_541180.2  XP_541180.2 
cow
(Bos taurus)
ACAT21   -- acetyl-Coenzyme A acetyltransferase 2 88.8(n)
89.9(a)
512044  NM_001075549.1  NP_001069017.1 
rat
(Rattus norvegicus)
Acat21   -- acetyl-Coenzyme A acetyltransferase 2 85.02(n)
87.37(a)
308100  NM_001006995.1  NP_001006996.1 
mouse
(Mus musculus)
Acat21, 5 17 (7.55 cM)5
acetyl-Coenzyme A acetyltransferase 21, 5 86.03(n)1
87.63(a)1
1104601  NM_009338.21  NP_033364.11 
 AK0372495  AK1517515  (see all 11)
chicken
(Gallus gallus)
ACAT21   -- acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl more 71.65(n)
72.43(a)
421587  NM_001039287.1  NP_001034376.1 
About this table        Species with no ortholog for ACAT2

ENSEMBL Gene Tree for ACAT2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ACAT2 gene
ACAT12  ACAA22  

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


10/75 NCBI SNPs in ACAT2 are shown (see all 75 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 66)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs256831,2
C,F,H160116333(+) TAGAAA/GAGGTG 1 K/R mis115Minor allele frequency- G:0.24MN EA EU WA NA 2824
rs34651,2
C,F,H160118385(+) CGTGGG/ACTTAC 1 G/G syn1 ese318Minor allele frequency- A:0.20MN EA NA EU WA 1750
--
rs34641,2
C,F160118349(+) GCTGTC/TGTTCT 1 V/V syn113Minor allele frequency- T:0.23MN EA NA NS 1300
--
rs412924661,2
F160116286(+) AAAGCT/GGGCCA 1 A/A syn16Minor allele frequency- G:0.01NS 664
rs117514801,2
A,C,F,H160117566(+) ATTATT/CCTTAA 1 -- int14Minor allele frequency- C:0.24EU EA WA 396
rs77590861,2
A,C,F,H160113843(+) aaaaaG/AaaaGA 1 -- int1 trp34Minor allele frequency- A:0.43EU EA WA 418
rs93557491,2
A,C,F,H160115195(+) tggcaG/Caatct 1 -- int110Minor allele frequency- C:0.24EU EA WA NS 1078
rs93473431,2
A,F,H160113368(+) tacctA/Ttaaag 1 -- int14Minor allele frequency- T:0.29EU EA WA 418
rs37982121,2
A,C,F160106862(-) TATCAA/GTCTGG 1 -- int17Minor allele frequency- G:0.34EA NS 2162
rs77588951,2
C,F,H160113455(+) atgctC/Tgtttt 1 -- int14Minor allele frequency- T:0.35EU EA WA 408
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HapMap Linkage Disequilibrium images for ACAT2 (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: 100678

1 Novoseek disease relationship for ACAT2 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
atherosclerosis 24.19 3 14615411 (1), 15451793 (1)
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1 PharmGKB disease relationship for ACAT2 gene
Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
SchizophreniaPD  15121641
About this table

Human Gene Mutation Database: ACAT2
Genetic Association Database: ACAT2
Human Genome Epidemiology Navigator: ACAT2 (9 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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10/41 PubMed articles for ACAT2 gene (see all 41 ):
(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: 39 HGNC: 94 AceView: ACAT2 Ensembl:ENSG00000120437 euGenes: HUgn39
ECgene: ACAT2 H-InvDB: ACAT2
(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)
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 ACAT2:
 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 ACAT2 Antibodies for ACAT2
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ACAT2 Browse small molecules at Sigma-Aldrich
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