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Aliases & Descriptionsfor HSD17B6 gene
(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 Aliases & Descriptions hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)1 2 retinol dehydrogenase2 RODH1 2 3 short chain dehydrogenase/reductase family 9C, member 62 HSE1 2 5 3-hydroxysteroid epimerase2 SDR9C61 2 oxidative 3-alpha-hydroxysteroid-dehydrogenase2 Oxidative 3-alpha hydroxysteroid dehydrogenase2 3 NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase2 3-alpha->beta-hydroxysteroid epimerase2 3 3(alpha->beta)-hydroxysteroid epimerasel2 3-alpha->beta-HSE2 3 3(alpha->beta)-hydroxysteroid epimerase2 17-beta-HSD62 3 oxidoreductase2 17-beta-HSD 62 3 EC 1.1.1.633 hydroxysteroid (17-beta) dehydrogenase 61 EC 1.1.1.623 17-beta-hydroxysteroid dehydrogenase type 62 EC 1.1.1.1053
Export aliases for HSD17B6 gene to outside databases Previous GC identifers: GC12P055444 GC12P057157
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Summariesfor HSD17B6 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for HSD17B6 : The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. Transcript variants utilizing alternative polyadenylation signals exist. (provided by RefSeq) UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 Function : NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductiveactivity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids Gene Wiki entry for HSD17B6
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Genomic Viewsfor HSD17B6 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HSD17B6 gene promoter: AP-1 HSF1 (long) p53 HSF2 NF-kappaB NF-kappaB1 c-Fos c-Jun STAT3 GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for HSD17B6 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.3 HGNC cytogenetic band: 12q13 HSD17B6 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 12 GeneLoc Exon Structure
GeneLoc location for GC12P054196: view genomic region
(about GC identifiers )
Start:
54,196,177 bp from pter
End:
54,220,440 bp from pter
Size:
24,264 bases
Orientation:
plus strand
1 alternative location : Chr 12+ 57,157,108-57,181,574
RefSeq DNA sequence: NC_000012.11 NT_029419.12
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Proteinsfor HSD17B6 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 (See
protein sequence )Recommended Name: 17-beta-hydroxysteroid dehydrogenase type 6 precursor Size : 317 amino acids; 35966 Da
Subcellular location : Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane;Peripheral membrane protein; Lumenal side (Potential)
Sequence caution : Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174;
Secondary accessions : O43275Explore the universe of human proteins at neXtProt for HSD17B6: NX_O14756
REFSEQ proteins: NP_003716.2 ENSEMBL proteins: ENSP00000318631 ENSP00000262028 Human Recombinant Proteins 5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6 ):
About this table
HSD17B6 for ontologies About GeneDecksing Antibodies for HSD17B6: Assays for HSD17B6:
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Protein
Domains/ Familiesfor HSD17B6 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HSD17B6 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O14756 ProtoNet protein and cluster: O14756
1 Blocks protein family : IPB002198 Short-chain dehydrogenase/reductase SDR UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 Similarity : Belongs to the short-chain dehydrogenases/reductases (SDR) family
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Gene Functionfor HSD17B6 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 Function : NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductiveactivity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids Catalytic activity : Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)HCatalytic activity : Testosterone + NAD(+) = androst-4-ene-3,17-dione + NADHCatalytic activity : Retinol + NAD(+) = retinal + NADHBiophysicochemical properties : Kinetic parameters: KM=0.19 uM for NAD; KM=0.18 uM for NADH; KM=54 uM for NADPH; KM=940uM for NADP; KM=3.2 uM for all-trans-retinol; KM=0.24 uM for allopregnanolone; KM=0.13 uM for 3-alpha-androstanediol; KM=0.23 uM for androsterone; KM=0.13 uM for dehydroepiandrosterone; Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone; Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol; Vmax=35 nmol/min/mg enzyme with androsterone; Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone; Note=the kinetic parameters were determined using microsomes from transfected cells; Enzyme Numbers (IUBMB): EC 1.1.1.105 EC 1.1.1.62 EC 1.1.1.63
5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7 ):
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HSD17B6 for ontologies About GeneDecksing
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Pathways & Interactionsfor HSD17B6 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
HSD17B6 for pathways About GeneDecksing 1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for HSD17B6 2 Kegg Pathways (Kegg details for HSD17B6) : SABiosciences Custom Pathway-Focused PCR Arrays for HSD17B6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HSD17B6 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD17B6 5 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
HSD17B6 for ontologies About GeneDecksing
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Drugs & Compoundsfor HSD17B6 gene (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
HSD17B6 for compounds About GeneDecksing Browse Tocris compounds for HSD17B6 3 Novoseek chemical compound relationships for HSD17B6 gene
About this table
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Transcriptsfor HSD17B6 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for HSD17B6 gene: NM_003725.2
Additional cDNA sequence: AF016509.1 AF223225.1 AK313423.1 BC020710.1 U89281.1
13 DOTS entries : DT.112239 DT.91751197 DT.95163537 DT.121209210 DT.121209224 DT.121209205 DT.95163540 DT.121209274
DT.121209293 DT.40307845 DT.91751202 DT.121209263 DT.121209277 11 AceView cDNA sequences :
AA317665 CB162089 CD248621 AV658227 AV683846 AU133812 AV660232 AV659731 AV691524 AV683719 AV653177
highest scoring ESTs for HSD17B6 :U89281 AA034944 AA034945 AA737280 AA934892 AA994186 AF016509 AF223225 AI087093 AI127797 Unigene Cluster for HSD17B6:
Hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) Hs.524513 [show with all ESTs ] Unigene Representative Sequence: NM_003725 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 (see all 8 ) ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c SP1 :           -   -   -                 -         SP2 :                                       SP3 :           -   -   -                         SP4 :           -   -   -                         SP5 :             -   -                        
About this scheme ECgene alternative splicing isoforms for HSD17B6 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000322165 (uc001smg.1 ) ENST00000262028
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Expression for HSD17B6 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section HSD17B6 expression in normal and diseased human tissues 1 / 2 / 3
5 probe-sets matching HSD17B6 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
37512_at2 , 3
U133-A
1
0.81
1.00
1.00
1.00
U89281
1.00
1.00
1.00
1
205700_at2 , 3
U133-A
1
0.91
1.00
--
--
NM_003725
0.60
1.00
0.82
1
37512_at2 , 3
U133-A
1
0.81
1.00
--
--
U89281
1.00
1.00
1.00
1
205700_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
37512_at2
U133Plus2
1
0.81
1.00
--
--
--
--
--
--
--
About this table
HSD17B6 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTTATATTTC SOURCE GeneReport for Unigene cluster: Hs.524513 Expression variation in blood from EXPOLDB for HSD17B6
UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 Tissue specificity : Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta,prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain
SABiosciences Custom PCR Arrays for HSD17B6
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Orthologsfor HSD17B6 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for HSD17B6 gene from 5/7 species (see all 7 )
About this table Species with no ortholog for HSD17B6 ENSEMBL Gene Tree for HSD17B6 (if available)
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Paralogsfor HSD17B6 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for HSD17B6 gene BDH1 2 SDR9C7 2 RDH16 2 DHRS9 2 RDH5 2
HSD17B6 for paralogs About GeneDecksing
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Genomic Variantsfor HSD17B6 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 12 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for HSD17B6 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for HSD17B6: --
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Disorders & Mutationsfor HSD17B6 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
HSD17B6 for disorders About GeneDecksing
OMIM: 606623 Human Genome Epidemiology (HuGE) Navigator: HSD17B6 (4 documents) Export disorders and mutations for HSD17B6 gene to outside databases
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Medical Newsfor HSD17B6 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor HSD17B6 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/23 PubMed articles for HSD17B6 gene, integrated from 7 sources (see all 23 ): (articles sorted by number of sources associating them with HSD17B6) Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PubMed id 9188497) 1 , 2 , 7 Biswas M.G. and Russell D.W. (1997) The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726) 1 , 3 Persson B.... Oppermann U. (2009) Gene structure, chromosomal localization and analysis of 3- ketosteroid reductase activity of the human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 11513953) 1 , 2 Huang X.-F. and Luu-The V. (2001) Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. (PubMed id 11360992) 1 , 2 Chetyrkin S.V.... Kedishvili N.Y. (2001) Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. (PubMed id 11165032) 1 , 3 Baker M.E. (2001) Molecular characterization of a first human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 10896656) 1 , 2 Huang X.-F. and Luu-The V. (2000) Genome-wide meta-analyses identifies seven loci assoc iated with platelet aggregation in response to agonists. (PubMed id 20526338) 1 Johnson A.D....Becker L.C. (2010) Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332) 1 Ewens K.G....Spielman R.S. (2010) Polymorphisms of the HSD17B6 and HSD17B5 genes in Chi nese women with polycystic ovary syndrome. (PubMed id 21039282) 1 Ke L....Wang Y. (2010) Independent confirmation of association between metab olic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta -hydroxysteroid dehydrogenase gene. (PubMed id 19837928) 1 Jones M.R....Goodarzi M.O. (2009)
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External Searches for HSD17B6 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HSD17B6 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing HSD17B6 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HSD17B6 gene (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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About This Section Patent Information for HSD17B6 gene: Search GeneIP for patents involving HSD17B6 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HSD17B6 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for HSD17B6
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