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Aliases & Descriptions for ACHE
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AChE 3 ARACHE 2 EC 3.1.1.7 3 N-ACHE 2 YT 2 , 5 acetylcholinesterase 2
Descriptions acetylcholinesterase (Yt blood group) 1 , 2 apoptosis-related acetylcholinesterase 2
Search outside databases for aliases for ACHE genePrevious GC identifers: GC07M099022 GC07M100085 GC07M100099 GC07M100132
Summaries for ACHE (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACHE : Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions andbrain cholinergic synapses, and thus terminates signal transmission. It is also found on the redblood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase existsin multiple molecular forms which possess similar catalytic properties, but differ in theiroligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the singleACHE gene, and the structural diversity in the gene products arises from alternative mRNAsplicing, and post-translational associations of catalytic and structural subunits. The major formof acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, whichforms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. Theother, alternatively spliced form, expressed primarily in the erythroid tissues, differs at theC-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associateswith the membranes through the phosphoinositide (PI) moieties added post-translationally.[provided by RefSeq] UniProtKB/Swiss-Prot: ACES_HUMAN, P22303 Function : Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of theacetylcholine released into the synaptic cleft. Role in neuronal apoptosis
Gene Wiki entry for ACHE (Acetylcholinesterase)
Genomic Location for ACHE
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACHE gene Entrez Gene cytogenetic band: 7q22 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22 ACHE 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 GC07M100325:
(about GC identifiers )
Start:
100,325,551 bp from pter
End:
100,331,477 bp from pter
Size:
5,927 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 99,847,220-99,853,146
RefSeq DNA sequence: NC_000007.12 NT_007933.14 NT_079595.2 Proteins for ACHE
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: ACES_HUMAN, P22303 (See
protein sequence )Recommended Name: Acetylcholinesterase precursor Size : 614 amino acids; 67796 Da
Subunit : Interacts with PRIMA1. The interaction with PRIMA1 is required to anchor it to the basallamina of cells and organize into tetramers (By similarity). Isoform H generates GPI-anchoreddimers; disulfide linked. Isoform T generates multiple structures, ranging from monomers anddimers to collagen-tailed and hydrophobic-tailed forms, in which catalytic tetramers areassociated with anchoring proteins that attach them to the basal lamina or to cell membranes. Inthe collagen-tailed forms, isoform T subunits are associated with a specific collagen, COLQ, whichtriggers the formation of isoform T tetramers, from monomers and dimers. Isoform R may bemonomeric
Subcellular location : Cell junction, synapse. Secreted (By similarity). Cell membrane; Peripheralmembrane protein (By similarity)
Subcellular location : Isoform T: Nucleus. Note=Only observed in apoptotic nuclei
Subcellular location : Isoform H: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (Bysimilarity)
Sequence caution : Sequence=AAA68151.1; Type=Frameshift; Positions=604;
PDB structures from and Proteopedia : 1B41 (3D)
 1F8U (3D)
 1PUV (3D)
 1PUW (3D)
 1VZJ (3D)
 2CLJ (3D)
 
Secondary accessions : A4D2E2 Q16169 Q29S23 Q2M324 Q504V3 Q86TM9 Q86YX9 Q9BXP7Alternative splicing : 4 isoforms : P22303-1 P22303-2 P22303-4 P22303-3
REFSEQ proteins (2 alternative transcripts):
NP_000656.1 NP_056646.1 ENSEMBL proteins: ENSP00000303211 ENSP00000241069 ENSP00000350037 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9
):
About this table Antibodies for ACHE: Assays for ACHE:
Protein
Domains/ Families for ACHE(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P22303 ProtoNet protein and cluster: P22303
1 Blocks protein family : IPB000997 Cholinesterase signature UniProtKB/Swiss-Prot: ACES_HUMAN, P22303 Similarity : Belongs to the type-B carboxylesterase/lipase family
Gene Function for ACHE
(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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000665 Applied Biosystems Silencer ® siRNAs for ACHE Sigma-Aldrich siRNA and siRNA Panels for ACHE Sigma-Aldrich shRNA Panels and shRNA for ACHE Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000665                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000665                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000665  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_015831 UniProtKB/Swiss-Prot: ACES_HUMAN, P22303 Function : Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of theacetylcholine released into the synaptic cleft. Role in neuronal apoptosis Catalytic activity : Acetylcholine + H(2)O = choline + acetateEnzyme Number (IUBMB): EC 3.1.1.7
Genatlas biochemistry entry for ACHE :acetylcholinesterase
15/16 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Ache) (see all 16
):5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
About this table
Pathways & Interactions for ACHE
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for ACHE (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ACHE 5/60 Interacting proteins for ACHE (ENSP00000350037 3 P22303 2 ) via UniProtKB, MINT, and/or STRING (see all 60
)About this table 5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11
):
About this table
Drugs & Compounds for ACHE (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 )
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Enzo Life Sciences drugs & compounds for ACHE
Compounds for ACHE available from Tocris Bioscience About this table 10/35 Novoseek chemical compound relationships for ACHE gene (see all 35
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
acetylthiocholine
92.92
103
10869180 (3), 9427520 (2), 11275256 (2), 18602908 (2) (see all 64 )
oxime
88.35
393
15498514 (6), 17900152 (6), 16904809 (5), 18281016 (5) (see all 99 )
thiocholine
86.62
26
15987132 (2), 19238297 (2), 15826103 (1), 17499494 (1) (see all 17 )
bw 284 c 51
86.28
43
8762162 (3), 8545050 (1), 11169626 (1), 10593614 (1) (see all 26 )
carbamate
83.59
80
19269469 (3), 8948071 (2), 9890446 (2), 18631301 (2) (see all 57 )
butyrylthiocholine
82.45
9
10340441 (1), 8367669 (1), 11275256 (1), 17300836 (1) (see all 6 )
acetylthiocholine chloride
79.52
6
17499494 (1), 17111624 (1), 10679638 (1)
cyclosarin
79.09
33
18045198 (3), 17438836 (3), 17370251 (2), 17960099 (2) (see all 16 )
phenserine
78.16
13
9675107 (2), 15795050 (1), 15974893 (1), 10874131 (1) (see all 9 )
propidium
77.14
29
9521743 (2), 15267237 (2), 10648652 (2), 18468882 (2) (see all 20 )
About this table
Transcripts for ACHE(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
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000665 Sigma-Aldrich siRNA and siRNA Panels for ACHE Sigma-Aldrich shRNA Panels and shRNA for ACHE Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000665 NM_015831
REFSEQ mRNAs for ACHE gene (2 alternative transcripts): NM_000665.3 NM_015831.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000665 NM_015831
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000665                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000665                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000665  
Additional cDNA sequence: AF334270.1 AK223443.1 AK291321.1 AY389977.1 BC026315.1 BC036813.1 BC094752.1 BC105060.1 BC105062.1 BC143469.1 M55040.1
11 DOTS entries : DT.416657 DT.121041597 DT.100751908 DT.101984170 DT.121041603 DT.100751910 DT.75103919 DT.97776847 DT.121041601 DT.101984168 DT.101984171
24/134 AceView cDNA sequences (see all 134
):BM023149 CD014076 CK904419 BC036813 BI753192 BE466391 CD014075 AI360141 CD014074 CD014073 BE551703 CD014072 CD014071 BC001541 BM719818 CA394873 H38691 BQ225068 BM718116 AI081892 AA401251 AW182170 BI489087 H19954
highest scoring ESTs for ACHE :AA446656 AF334270 AI091215 AI207928 BC026315 BC036813 BG395920 BG705869 BG708331 BI915019
Unigene Cluster for ACHE: Acetylcholinesterase (Yt blood group) Hs.154495 [show with all ESTs ] Unigene Representative Sequence: NM_015831 GeneLoc Exon Structure 5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ACHE (see all 11
) ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b SP1 :   -   -                       -       SP2 :     -           -   -   -         -       SP3 :     -                       -       SP4 :               -   -           -       SP5 :                           -      
About this scheme ECgene alternative splicing isoforms for ACHE 3 Ensembl transcripts including schematic representations : ENST00000302913
ENST00000241069
ENST00000357451
Expression for ACHE
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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ACHE expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACHE 1 / 2 / 3
6 probe-sets matching ACHE gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.154495 Expression variation in blood from EXPOLDB for ACHE
UniProtKB/Swiss-Prot: ACES_HUMAN, P22303 Tissue specificity : Isoform H is highly expressed in erythrocytes
Orthologs for ACHE
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACHE gene from 5/9 species (see all 9
)
About this table Species with no ortholog for ACHE ENSEMBL Gene Tree for ACHE Paralogs for ACHE (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACHE gene TG 2 BCHE 2
SNPs/Variants for ACHE (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: ACES_HUMAN, P22303 Polymorphism : ACHE is responsible for the Yt blood group system. The molecular basis of theYt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353corresponds to Yt(a) and the rare variant with Asn-353 to Yt(b)
HapMap Linkage Disequilibrium images for ACHE (up to first 250kb)
Disorders & Mutations for ACHE
(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 .)
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OMIM: 100740 disorders : 112100 UniProtKB/Swiss-Prot: ACES_HUMAN, P22303
Behaves as an amyloid-promoting factor to promote the formation of amyloid plaques inAlzheimer disease
10/93 Novoseek disease relationships for ACHE gene (see all 93
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease
88.80
753
1469405 (5), 17553629 (4), 9269216 (4), 1671469 (4) (see all 99 )
acetylcholinesterase expression
83.90
30
17000130 (5), 17320203 (4), 12707285 (2), 1692114 (1) (see all 20 )
endplate acetylcholinesterase deficiency
82.82
14
12609505 (3), 16009904 (1), 18647752 (1), 18374322 (1) (see all 9 )
myasthenic syndromes congenital
78.91
21
12609505 (2), 9758617 (2), 15248101 (1), 16009904 (1) (see all 12 )
hirschsprung disease
78.10
94
11528605 (4), 14680278 (3), 8747488 (3), 11719866 (3) (see all 44 )
poisoning
76.13
159
15065394 (4), 10477195 (3), 16601804 (2), 18281016 (2) (see all 82 )
dementia
74.97
162
1469405 (4), 9351648 (4), 8951800 (3), 14676050 (3) (see all 95 )
senile plaques
70.48
93
1703383 (3), 9282941 (3), 9062656 (3), 1717194 (2) (see all 46 )
dementia vascular
64.85
17
17215726 (2), 15224429 (1), 18174021 (1), 2403232 (1) (see all 14 )
intoxication
62.78
64
16601804 (2), 18045198 (2), 17194020 (2), 1757241 (1) (see all 42 )
About this table Blood Group Antigen Gene Mutation Database (BGMUT) Yt blood group system Human Gene Mutation Database : ACHE Genetic Association Database: ACHE Human Genome Epidemiology Navigator: ACHE (23 documents)
Medical News for ACHE (Possibly Related Articles in
Doctor's Guide )
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Publications for ACHE (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1308 PubMed articles for ACHE gene (see all 1308
): Mutagenesis of human acetylcholinesterase. Identification of residues involved in catalytic activity and in polypeptide folding. (PubMed id 1517212) 1, 3, 4 Shafferman A.... Barak D. (1992) Expression of three alternative acetylcholinesterase messenger RNAs in human tumor cell lines of different tissue origins. (PubMed id 8299725) 1, 3, 4 Karpel R.... Soreq H. (1994) Inherited and acquired interactions between ACHE and PON1 polymorphisms modulate plasma acetylcholinesterase and paraoxonase activities. (PubMed id 15715671) 1, 3, 6 Bryk B....Soreq H. (2005) Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. (PubMed id 15690550) 1, 3, 6 Cook L.J....Rubinsztein D.C. (2005) Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations. (PubMed id 15974920) 1, 3, 6 Hasin Y....Sussman J.L. (2005) Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study. (PubMed id 15060281) 3, 6 Sklan E.H....Soreq H. (2004) A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene. (PubMed id 15459952) 3, 6 Hasin Y....Sussman J.L. (2004) The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix. (PubMed id 15526038) 3, 4 Dvir H.... Silman I. (2004) Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1. (PubMed id 12928915) 3, 6 Clarimon J....Comas D. (2003) The DNA sequence of human chromosome 7. (PubMed id 12853948) 3, 4 Hillier L.W.... Wilson R.K. (2003)
Search for ACHE
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Genome Databases showing ACHE
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACHE
(According to HUGE )
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--
Specialized Databases showing ACHE (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
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Name Description
dbRBC/BGMUT http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=yt Wikipedia http://en.wikipedia.org/wiki/Acetylcholinesterase SeattleSNPs http://pga.gs.washington.edu/data/ache/
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-- Services for ACHE (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
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Products for ACHE:
Tocris compounds for ACHE
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009