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ECH1 Gene

protein-coding   GIFtS: 57

GC19M043997
enoyl Coenzyme A hydratase 1, peroxisomal
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
EC 5.3.3.- 3
HPXEL 1, 2
Descriptions
delta3,5-delta2,4-dienoyl-CoA isomerase 2
dienoyl-CoA isomerase 2
enoyl Coenzyme A hydratase 1, peroxisomal 2
peroxisomal enoyl-CoA hydratase 1 2
peroxisomal enoyl-coenzyme A hydratase-like protein 2
External Ids
HGNC: 31491
Entrez Gene: 18912
UniProtKB: Q130113
Ensembl: ENSG000001048237
Search outside databases for aliases for ECH1 gene

Previous GC identifers: GC19M039918 GC19M039697 GC19M043982

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

EntrezGene summary for ECH1:
This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high
sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a
conserved domain characteristic of these proteins. The encoded protein, which contains a
C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which
localizes to the matrix of both the peroxisome and mitochondria, can isomerize
3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a
delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty
acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators.
[provided by RefSeq]

UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
Function: Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA (By similarity)

Gene Wiki entry for ECH1

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ECH1 gene  

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

ECH1 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 19         GeneLoc Exon Structure

GeneLoc location for GC19M043997:     (about GC identifiers)

Start:
43,997,902 bp from pter
End:
44,014,337 bp from pter
Size:
16,436 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011109.15  
(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: ECH1_HUMAN, Q13011 (See protein sequence)
Recommended Name: Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial precursor  
Size: 328 amino acids; 35816 Da
Subunit: Homohexamer (By similarity)
Subcellular location: Mitochondrion (By similarity). Peroxisome (By similarity)
PDB structures from and Proteopedia :
2VRE (3D)    
Secondary accessions: Q8WVX0 Q96EZ9

REFSEQ proteins: NP_001389.2  

ENSEMBL proteins: 
ENSP00000221418 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (ECH1)
Human Recombinant Proteins from Abnova (ECH1)
              OriGene Purified Recombinant Human Protein: ECH1 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IEA--
GO:0005777 peroxisome TAS7558027
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Antibodies for ECH1: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ECH1
Browse R&D Systems for Antibodies
Antibodies from Abcam (ECH1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ECH1)
Novus Biologicals Antibodies for ECH1

Assays for ECH1: 
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:
 IPR018376 Enoyl-CoA_hyd/isom_CS
 IPR001753 Crotonase_core


   GeneDecks  ECH1 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q13011

ProtoNet protein and cluster: Q13011

UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
Similarity: Belongs to the enoyl-CoA hydratase/isomerase 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 (ECH1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ECH1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC011792

              Applied Biosystems Silencer® siRNAs for ECH1

              Sigma-Aldrich siRNA and siRNA Panels for ECH1  
                     Sigma-Aldrich shRNA for ECH1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ECH1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001398
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001398
                                 untagged cDNA clones in CMV expression vector (see all 2): BC011792 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001398

UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
Function: Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA (By similarity)
Enzyme Number (IUBMB): EC 5.3.3.- 

Genatlas biochemistry entry for ECH1:
peroxisomal matrix protein,enoyl-CoA hydratase-like

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

GO IDQualified GO termEvidencePubMed IDs
GO:0004300 enoyl-CoA hydratase activity TAS7558027
GO:0005515 protein binding IPI15383276
GO:0016853 isomerase activity 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.)
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5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for  ECH1  (Your Favorite Gene powered by Ingenuity) (see all 8
 Lysine Degradation
 Fatty Acid Metabolism
 Butanoate Metabolism
 Propanoate Metabolism
 Tryptophan Metabolism

   GeneDecks  ECH1 for the pathways selected above  
About GeneDecksing

1 Kegg Pathway  (Kegg details for ECH1):
 hsa00350 Tyrosine metabolism

   GeneDecks  ECH1 for the pathways selected above  
About GeneDecksing
UniProtKB/Swiss-Prot: ECH1_HUMAN, Q13011
Pathway: Lipid metabolism; fatty acid beta-oxidation


5/6 Interacting proteins for ECH1 (Q130111, 2) via UniProtKB, MINT, and/or STRING (see all 6 )

InteractantInteraction Details
GeneCardExternal ID(s)
HTTP428581, 2EBI-711968, EBI-466029 MINT-3981370 MINT-3978118 EBI-711968, EBI-466029 MINT-3981370 MINT-3978118
HTTP428581, 2EBI-711968, EBI-466029 MINT-3981370 MINT-3978118 EBI-711968, EBI-466029 MINT-3981370 MINT-3978118
EEF1GP266412MINT-3980625 MINT-63613
CSTF2P332402MINT-63678
PAFAH1B3Q151022MINT-64215
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5 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS7558027
GO:0006629 lipid metabolic process IEA--
GO:0006631 fatty acid metabolic process IEA--
GO:0006635 fatty acid beta-oxidation TAS7558027
GO:0008152 metabolic process IEA--
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 ECH1

(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 (ECH1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ECH1)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC011792

              Sigma-Aldrich siRNA and siRNA Panels for ECH1  
                     Sigma-Aldrich shRNA for ECH1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001398  

REFSEQ mRNAs for ECH1 gene: 

NM_001398.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001398  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001398
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001398
                                 untagged cDNA clones in CMV expression vector (see all 2): BC011792 

Additional cDNA sequence: 

AK126566.1 AK291860.1 AK301211.1 AY927476.1 BC011792.2 BC014786.1 BC017408.1 CR591368.1 
CR593921.1 CR598218.1 CR600133.1 CR600240.1 CR603672.1 CR610523.1 CR611035.1 CR615338.1 
CR620208.1 CR620644.1 CR622906.1 CR625294.1 U16660.1 

24/30 DOTS entries (see all 30 ):

DT.75174730  DT.100045126  DT.95097900  DT.100873390  DT.100873375  DT.100873391  DT.121453531  DT.91764374 
DT.100873373  DT.95171557  DT.92055209  DT.121453634  DT.101985500  DT.95171554  DT.121453566  DT.95171567 
DT.95171569  DT.95299255  DT.100873381  DT.92441002  DT.100802315  DT.100835287  DT.100873382  DT.102833787 

24/889 AceView cDNA sequences (see all 889 ):

AI344583 BX401432 BM974528 BM310387 CB159190 BC011792 BQ675225 CD611407 
BU608053 BP870554 BI255093 BE904377 BE613773 AL559615 BQ276342 BQ878641 
BX417514 CA406987 CR620208 F18477 BU195742 BV177689 BQ437897 CB147811 

highest scoring ESTs for ECH1:

AA121210 AA149782 AA149795 AA211653 AA218655 AA306086 AA307959 AA313933 AA315329 AA326065 

Unigene Cluster for ECH1:

Enoyl Coenzyme A hydratase 1, peroxisomal
Hs.196176  [show with all ESTs]
Unigene Representative Sequence: AK126566


GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ECH1 (see all 12 )

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

About this scheme

ECgene alternative splicing isoforms for ECH1

1 Ensembl transcript including schematic representation:
ENST00000221418  
(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

ECH1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ECH1

1 / 2 / 3

4 probe-sets matching ECH1 gene


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

32756_at2, 3 U95-A 1 1.00 1.00 0.98 0.91 AF030249 0.20 1.00 0.72 1

73116_s_at2, 3 U95-E 1 1.00 1.00 0.99 1.09 AI434583 0.80 0.88 0.84 1

200789_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001398 0.60 0.83 0.73 1

200789_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CTGCAGACCC

SOURCE GeneReport for Unigene cluster: Hs.196176

Expression variation in blood from EXPOLDB for ECH1

(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 ECH1 gene from 5/16 species (see all 16 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ECH11   -- enoyl Coenzyme A hydratase 1, peroxisomal 84.15(n)
79.88(a)
476467  XM_533678.2  XP_533678.1 
chimpanzee
(Pan troglodytes)
ECH11   -- enoyl Coenzyme A hydratase 1, peroxisomal 98.68(n)
98.17(a)
747511  XM_001167817.1  XP_001167817.1 
cow
(Bos taurus)
ECH11   -- enoyl Coenzyme A hydratase 1, peroxisomal 82.41(n)
77.91(a)
507431  XM_866888.2  XP_871981.1 
rat
(Rattus norvegicus)
Ech11   -- enoyl coenzyme A hydratase 1, peroxisomal 79.71(n)
75.23(a)
64526  NM_022594.1  NP_072116.1 
mouse
(Mus musculus)
Ech11, 5 75
enoyl coenzyme A hydratase 1, peroxisomal1, 5 79.92(n)1
74.31(a)1
517981  NM_016772.11  NP_058052.11 
 AA6173315  AF0303435  (see all 10)
About this table        Species with no ortholog for ECH1

ENSEMBL Gene Tree for ECH1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ECH1 gene
ECHDC32  

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


10/105 NCBI SNPs in ECH1 are shown (see all 105 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 41)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs94191,2
C,F,H44013927(-) AGAGGA/CGGCTT 1 E/A mis114Minor allele frequency- C:0.42MN NA EU EA WA 1400
rs22292591,2
C,F,H43998943(-) TCATCG/AGGAAC 1 R/G mis19Minor allele frequency- A:0.16MN EA WA EU 2272
rs73510571,2
C,F,H44014877(+) CTATAT/CGCAGA 1 -- ng318Minor allele frequency- C:0.01EU EA WA 838
--
rs115492781,2
H44013828(-) CAACCG/TGCCCA 1 R/L mis1 ese34Minor allele frequency- T:0.00EU EA WA 406
rs11385261,2
C43997926(-) ACCCCA/CCAAAC 1 -- ut310--------
--
rs104114801,2
C44015994(+) ggtggC/Ttcagg 1 -- ng310--------
--
rs104118441,2
C44015998(+) gctcaC/Ggtctg 1 -- ng310--------
--
rs104134821,2
A44016170(+) gcgggC/Tggatc 1 -- ng310--------
--
rs178507981,2
C,F,H44000030(+) ATGTCC/TGAAGC 1 S/S syn1 ese38Minor allele frequency- T:0.28EU EA NA WA 778
--
rs81044201,2
A,C,F,H44006859(+) gttgcG/Agtttc 1 -- int14Minor allele frequency- A:0.40EU EA WA 404
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HapMap Linkage Disequilibrium images for ECH1 (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: 600696

(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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10/12 PubMed articles for ECH1 gene (see all 12 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 1891 HGNC: 3149 AceView: ECH1 Ensembl:ENSG00000104823 euGenes: HUgn1891
ECgene: ECH1 H-InvDB: ECH1
(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 ECH1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for ECH1 Antibodies for ECH1
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ECH1 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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(ECH1)
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 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 ECH1




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for ECH1

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