AKR1C2 Gene
protein-coding GIFtS : 56
GC10M005021
aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: DDH2 )
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Aliases & Descriptions for AKR1C2
(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 3-alpha-HSD3 3 AKR1C-pseudo 2 BABP 1 , 2 DD 1 , 2 DD-2 3 DD/BABP 3 DD2 1 , 2 , 3 , 5 DDH2 2 , 3 , 5 EC 1.-.-.-,EC 1.3.1.20,EC 1.1.1.213 3 HAKRD 1 , 2 , 5 HBAB 2 MCDR2 1 , 2 OTTHUMP00000018995 2 OTTHUMP00000044759 2
Descriptions Chlordecone reductase homolog HAKRD 3 Dihydrodiol dehydrogenase 2 3 Dihydrodiol dehydrogenase/bile acid-binding protein 3 Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase 2 , 3 Type III 3-alpha-hydroxysteroid dehydrogenase 3 aldo-keto reductase family 1, member C2 2 aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) 2 chlordecone reductase homolog 2 pseudo-chlordecone reductase 2 type II dihydrodiol dehydrogenase 2
Search outside databases for aliases for AKR1C2 genePrevious GC identifers: GC10M005079 GC10M004991 GC10M004985
Summaries for AKR1C2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AKR1C2 : This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones totheir corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes displayoverlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity,and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequenceidentity with three other gene members and is clustered with those three genes at chromosome10p15-p14. [provided by RefSeq] UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895 Function : Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormonesinto the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of themost potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability
Genomic Location for AKR1C2
(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 Entrez Gene cytogenetic band: 10p15-p14 Ensembl cytogenetic band: 10p15.1 HGNC cytogenetic band: 10p15-p14 AKR1C2 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 10 GeneLoc Exon Structure
GeneLoc location for GC10M005021:
(about GC identifiers )
Start:
5,021,965 bp from pter
End:
5,050,207 bp from pter
Size:
28,243 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000010.9 NT_077567.3 Proteins for AKR1C2
(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: AK1C2_HUMAN, P52895 (See
protein sequence )Recommended Name: Aldo-keto reductase family 1 member C2 Size : 323 amino acids; 36735 Da
Subcellular location : Cytoplasm (Potential)
PDB structures from and Proteopedia : 1IHI (3D)
 1J96 (3D)
 1XJB (3D)
 2HDJ (3D)
 2IPJ (3D)
 
Secondary accessions : A8K2N9 Q14133 Q5SR16 Q7M4N1 Q96A71
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001345.1 NP_995317.1 ENSEMBL proteins: ENSP00000370020 ENSP00000327636 ENSP00000385221 ENSP00000370129 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: AKR1C2 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005737 cytoplasm
IEA --
About this table Antibodies for AKR1C2: Assays for AKR1C2:
Protein
Domains/ Families for AKR1C2(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 P52895 ProtoNet protein and cluster: P52895
1 Blocks protein family : IPB001395 Aldo/keto reductase UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895 Similarity : Belongs to the aldo/keto reductase family
Gene Function for AKR1C2
(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_001354 Applied Biosystems Silencer ® siRNAs for AKR1C2 Sigma-Aldrich siRNA and siRNA Panels for AKR1C2 Sigma-Aldrich shRNA for AKR1C2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001354                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001354                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001354  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001354 UniProtKB/Swiss-Prot: AK1C2_HUMAN, P52895 Function : Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormonesinto the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of themost potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability Catalytic activity : Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPHCatalytic activity : Androsterone + NAD(P)(+) = 5-alpha-androstane-3,17-dione + NAD(P)HEnzyme regulation : Inhibited by hexestrol with an IC(50) of 2.8 uM, 1,10-phenanthroline with anIC(50) of 2100 uM, 1,7-phenanthroline with an IC(50) of 1500 uM, flufenamic acid with an IC(50) of0.9 uM, indomethacin with an IC(50) of 75 uM, ibuprofen with an IC(50) of 6.9 uM, lithocholic acidwith an IC(50) of 0.07 uM, ursodeoxycholic acid with an IC(50) of 0.08 uM and chenodeoxycholicacid with an IC(50) of 0.13 uM Biophysicochemical properties : Kinetic parameters: KM=260 uM for (s)-tetralol; KM=520 uM for(s)-indan-1-ol; KM=5000 uM for benzene dihydrodiol; KM=1 uM for5-beta-pregnane-3-alpha,20-alpha-diol; KM=208 uM for 9-alpha,11-beta-PGF2; KM=0.3 uM for5-beta-androstane-3,17-dione; KM=79 uM for PGD2; Enzyme Number (IUBMB): EC 1.-.-.-,EC
Genatlas biochemistry entry for AKR1C2 :aldo-keto reductase family 1,member C2 (3-alpha hydroxysteroid dehydrogenase,type III),mainlyexpressed in liver,also in other tissues,with high affinity binding for bile acids,also catalyzingdetoxification of polycyclic aromatic hydrocarbons 4 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0016491 oxidoreductase activity
IEA -- GO:0032052 bile acid binding
IDA 8573067 GO:0047026 3-alpha-hydroxysteroid dehydrogenase (A-specific) activity
IEA -- GO:0047115 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity
IDA 8573067
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Pathways & Interactions for AKR1C2
(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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2 Sigma-Aldrich "Your Favorite Gene" Pathways for AKR1C2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for AKR1C2 5/16 Interacting proteins for AKR1C2 (ENSP00000370129 3 ) via UniProtKB, MINT, and/or STRING (see all 16
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for AKR1C2 (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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Browse Tocris compounds for AKR1C2 10/18 Novoseek chemical compound relationships for AKR1C2 gene (see all 18
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
3alpha-hydroxysteroid
94.63
13
12416991 (1), 18252781 (1), 8546681 (1), 12539226 (1) (see all 12 )
dihydroprogesterone
84.02
2
15494612 (1)
bile acid
79.42
4
10619355 (1), 8172617 (1), 15026176 (1)
chlordecone
79.02
5
7789999 (2), 10619355 (1), 8172617 (1)
hydroxysteroid
76.60
2
16455123 (2)
5alpha-dihydroprogesterone
74.05
3
11995921 (2)
androstenedione
73.04
1
14671194 (1)
nadp+
64.48
5
11513593 (2), 12810547 (1), 7948008 (1)
steroid
61.40
11
16455123 (2), 12604225 (1), 17662597 (1), 11514561 (1) (see all 8 )
3alpha-hydroxy-5alpha-pregnan-20-one
56.35
1
11995921 (1)
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Transcripts for AKR1C2(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_001354 Sigma-Aldrich siRNA and siRNA Panels for AKR1C2 Sigma-Aldrich shRNA for AKR1C2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001354 NM_205845
REFSEQ mRNAs for AKR1C2 gene (2 alternative transcripts): NM_001354.4 NM_205845.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001354 NM_205845
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001354                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001354                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001354  
Additional cDNA sequence: AB209017.1 AK091128.1 AK290304.1 AK296419.1 AK296686.1 AK308385.1 BC007024.1 BC063574.1 M33376.1 U05598.1
24/30 DOTS entries (see all 30
): DT.92462965 DT.91810606 DT.100889730 DT.92462917 DT.97776113 DT.92027039 DT.100889725 DT.100889732 DT.100889726 DT.121225152 DT.97855879 DT.75180336 DT.91821287 DT.101985543 DT.437774 DT.121225295 DT.91931968 DT.100889715 DT.91653215 DT.92462948 DT.121225011 DT.121225128 DT.91835807 DT.100031708
24/261 AceView cDNA sequences (see all 261
):CB114571 CB133175 CB163887 NM_001354 AW264533 BC007024 BG289110 CB118359 BQ955939 BF725515 CB118742 BM793774 CB123515 CB115985 BM787660 F29946 BQ932644 CB118502 NM_205845 BE786673 BU158823 CB134192 BU153526 BQ182205
highest scoring ESTs for AKR1C2 :AB021654 AB031084 BQ421214 BQ932644 CB106556 CB121830 CB121831 CB136955 AA345096 AI114523
Unigene Cluster for AKR1C2: Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) Hs.567256 [show with all ESTs ] Unigene Representative Sequence: AK091128 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for AKR1C2 ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 SP1 :                           SP2 :                   -         SP3 :         -                   SP4 :                          
About this scheme ECgene alternative splicing isoforms for AKR1C2 4 Ensembl transcripts including schematic representations : ENST00000380646
ENST00000331192
ENST00000407674
ENST00000380753
Expression for AKR1C2
(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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AKR1C2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AKR1C2 1 / 2 / 3
10 probe-sets matching AKR1C2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.567256
Orthologs for AKR1C2
(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 AKR1C2 gene from 5/8 species (see all 8
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
cow (Bos taurus)
AKR1C41
--
aldo-keto reductase family 1, member C4 (chlordecone more
82.87(n) 77.71(a)
282138 NM_181027.2 NP_851370.1
rat (Rattus norvegicus)
Akr1c211
--
aldo-keto reductase family 1, member C21
77.57(n) 70.75(a)
291283 NM_001013057.1 NP_001013075.1
mouse (Mus musculus)
Akr1c211
--
aldo-keto reductase family 1, member C21
77.61(n) 73.37(a)
77337 NM_029901.2 NP_084177.2
fruit fly (Drosophila melanogaster)
CG60843
68C15
aldehyde reductase
50(a) (best of 7)
--
worm (Caenorhabditis elegans)
Y39G8B.1a3
II(13970799-13972831)
--
41(a) (best of 10)
--
About this table Species with no ortholog for AKR1C2 ENSEMBL Gene Tree for AKR1C2 Paralogs for AKR1C2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AKR1C2 gene AKR1C1 1 2 tAKR 2 AKR1C3 2 AKR1CL1 2 AKR1C4 2
SNPs/Variants for AKR1C2 (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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HapMap Linkage Disequilibrium images for AKR1C2 (up to first 250kb)
Disorders & Mutations for AKR1C2
(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: 600450
6 Novoseek disease relationships for AKR1C2 gene
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Medical News for AKR1C2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AKR1C2 (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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10/96 PubMed articles for AKR1C2 gene (see all 96
): Sequence of the cDNA of a human dihydrodiol dehydrogenase isoform (AKR1C2) and tissue distribution of its mRNA. (PubMed id 9716498) 1, 2, 3, 4 Shiraishi H.... Hara A. (1998) Crystal structure of human type III 3alpha-hydroxysteroid dehydrogenase/bile acid binding protein complexed with NADP(+) and ursodeoxycholate. (PubMed id 11513593) 1, 3, 4 Jin Y....Lewis M. (2001) Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PubMed id 10672042) 1, 3, 4 Nishizawa M.... Ito S. (2000) Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. (PubMed id 8573067) 1, 3, 4 Hara A....Ishida N. (1996) Structure of the human 3alpha-hydroxysteroid dehydrogenase type 3 in complex with testosterone and NADP at 1.25-A resolution. (PubMed id 11514561) 1, 3, 4 Nahoum V.... Lin S.X. (2001) Structure of a gene coding for human dihydrodiol dehydrogenase/bile acid-binding protein. (PubMed id 7959017) 1, 3, 4 Qin K.-N.... Cheng K.-C. (1994) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Molecular cloning of human type 3 3 alpha-hydroxysteroid dehydrogenase that differs from 20 alpha-hydroxysteroid dehydrogenase by seven amino acids. (PubMed id 8920937) 3, 4 Dufort I.... Luu-The V. (1996) cDNA and deduced amino acid sequences of a human colon dihydrodiol dehydrogenase. (PubMed id 8011662) 3, 4 Ciaccio P.J. and Tew K.D. (1994)
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Genome Databases showing AKR1C2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AKR1C2
(According to HUGE )
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--
Specialized Databases showing AKR1C2 (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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-- Services for AKR1C2 (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 AKR1C2:
Search Tocris compounds for AKR1C2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009