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Aliases & Descriptionsfor NMNAT3 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 nicotinamide nucleotide adenylyltransferase 31 2 NMN adenylyltransferase 32 3 PNAT31 2 5 nicotinamide mononucleotide adenylyltransferase 32 Pyridine nucleotide adenylyltransferase 32 3 PNAT-33 Nicotinate-nucleotide adenylyltransferase 32 3 EC 2.7.7.183 NaMN adenylyltransferase 32 3 EC 2.7.7.13
Export aliases for NMNAT3 gene to outside databases Previous GC identifers: GC03U900263 GC03M140599 GC03M140761 GC03M139279
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Summariesfor NMNAT3 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 NMNAT3 : The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 (PubMed 12574164)).(supplied by OMIM) UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66 Function : Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidatedform; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD (+), NADH, NAAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following injury
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Genomic Viewsfor NMNAT3 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 NMNAT3 gene promoter: GCNF-2 GCNF-1 HNF-1A Cdc5 FAC1 GATA-1 Chx10 Meis-1 HOXA9B SRF Other transcription factors Search SABiosciences Chromatin IP Primers for NMNAT3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NMNAT3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3q23 Ensembl cytogenetic band: 3q23 HGNC cytogenetic band: 3q23 NMNAT3 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 3 GeneLoc Exon Structure
GeneLoc location for GC03M136654: view genomic region
(about GC identifiers )
Start:
136,654,478 bp from pter
End:
136,772,283 bp from pter
Size:
117,806 bases
Orientation:
minus strand
1 alternative location : Chr 3- 139,279,022-139,396,859
RefSeq DNA sequence: NC_000003.11 NT_005612.16
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Proteinsfor NMNAT3 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: NMNA3_HUMAN, Q96T66 (See
protein sequence )Recommended Name: Nicotinamide mononucleotide adenylyltransferase 3 Size : 252 amino acids; 28322 Da
Cofactor : Divalent metal cations. Magnesium confers the highest activity
Subunit : Homotetramer
Subcellular location : Mitochondrion
PDB structures from and Proteopedia : 1NUP (3D)
 1NUQ (3D)
 1NUR (3D)
 1NUS (3D)
 1NUT (3D)
 1NUU (3D)
 
Secondary accessions : Q8N4G1Alternative splicing : 2 isoforms : Q96T66-1 Q96T66-2 Explore the universe of human proteins at neXtProt for NMNAT3: NX_Q96T66
REFSEQ proteins: NP_835471.1 ENSEMBL proteins: ENSP00000384319 ENSP00000426357 ENSP00000427634 ENSP00000340523 ENSP00000384684 ENSP00000426375 ENSP00000425041 ENSP00000296202 ENSP00000423335 ENSP00000412953 Human Recombinant Proteins 2 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
NMNAT3 for ontologies About GeneDecksing Antibodies for NMNAT3: Assays for NMNAT3:
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Protein
Domains/ Familiesfor NMNAT3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NMNAT3 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q96T66 ProtoNet protein and cluster: Q96T66
1 Blocks protein family : IPB004820 Cytidylyltransferase UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66 Similarity : Belongs to the eukaryotic NMN adenylyltransferase family
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Gene Functionfor NMNAT3 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: NMNA3_HUMAN, Q96T66 Function : Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidatedform; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD (+), NADH, NAAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleotide (NGD) as substrates. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NAADP(+). Protects against axonal degeneration following injury Catalytic activity : ATP + nicotinamide ribonucleotide = diphosphate + NAD(+)Catalytic activity : ATP + nicotinate ribonucleotide = diphosphate + deamido-NAD(+)Enzyme regulation : Activity is strongly inhibited by galotannin. Inhibited byP1-(adenosine-5')-P4-(nicotinic-acid-riboside-5')-tetraphosphate (Nap4AD) Biophysicochemical properties : Kinetic parameters: KM=209 uM for NMN; KM=130 uM for NAD(+); KM=29 uM for ATP; KM=390 uMfor PPi; KM=276 uM for GTP; KM=350 uM for ITP; KM=111 uM for NaMN; KM=130 uM for NMNH; KM=2.01 uM for triazofurin monophosphate; Vmax=3.6 umol/min/mg enzyme for NAD synthesis; Vmax=12.8 umol/min/mg enzyme for pyrophosphorolytic NAD(+) cleavage; Vmax=2.9 umol/min/mg enzyme for pyrophosphorolytic NADH cleavage; Enzyme Numbers (IUBMB): EC 2.7.7.18 EC 2.7.7.1
5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):
About this table
NMNAT3 for ontologies About GeneDecksing
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Pathways & Interactionsfor NMNAT3 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
NMNAT3 for pathways About GeneDecksing 1 Millipore Pathway for NMNAT3 1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for NMNAT3 2 Kegg Pathways (Kegg details for NMNAT3) :UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66 Pathway : Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from nicotinamide D-ribonucleotide: step 1/1 SABiosciences Custom Pathway-Focused PCR Arrays for NMNAT3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for NMNAT3 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NMNAT3 5/20 Interacting proteins for NMNAT3 (ENSP00000296202 3 ) via UniProtKB, MINT, and/or STRING (see all 20 )
About this table 5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7 ):
About this table
NMNAT3 for ontologies About GeneDecksing
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Drugs & Compoundsfor NMNAT3 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 Browse Tocris compounds for NMNAT3
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Transcriptsfor NMNAT3 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 NMNAT3 gene: NM_178177.2
Additional cDNA sequence: AF345564.1 AK123208.1 AK127477.1 BC034374.1 BC036218.1 BX649063.1
8 DOTS entries : DT.101983519 DT.213011 DT.75176519 DT.75199714 DT.92416392 DT.97854978 DT.40126591 DT.40298207
24/63 AceView cDNA sequences (see all 63 ):
AF345564 AI142380 BU192858 BC036218 BX088743 T79582 BM931466 AA809713 BF507839 BX649063 AA917773 BM980641 BF197923 BI964038 AA514053 AA676739 CB069824 BI908510 AK127477 BI758722 T79660 BM019115 AW249913 AI913815
highest scoring ESTs for NMNAT3 :AA243119 AA833694 AW009234 CK903720 AA232215 AA514053 AA662455 AA676739 AA703131 AA703143 Unigene Cluster for NMNAT3:
Nicotinamide nucleotide adenylyltransferase 3 Hs.208673 [show with all ESTs ] Unigene Representative Sequence: AK127477 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NMNAT3 (see all 6 ) ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d SP1 :             -               SP2 :         -     -   -             SP3 :           -   -   -   -           SP4 :       -   -     -   -             SP5 :             -   -   -          
About this scheme ECgene alternative splicing isoforms for NMNAT3 16 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000406164 ENST00000512391 ENST00000505779 ENST00000511003 ENST00000509291 ENST00000339837 ENST00000406824 ENST00000509447 ENST00000509737 ENST00000514703 ENST00000509034 ENST00000511444 ENST00000507242 ENST00000296202 ENST00000506254 (uc003etj.2 uc003etk.2 uc003etl.2 uc010hul.2 )ENST00000413939
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Expression for NMNAT3 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 NMNAT3 expression in normal and diseased human tissues 1 / 2 / 3
6 probe-sets matching NMNAT3 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
58237_at2 , 3
U95-B
1
0.88
1.00
0.97
0.83
AW009234
0.80
1.00
0.91
1
77748_at2 , 3
U95-D
1
0.44
1.00
0.86
1.17
AA833694
0.80
1.00
0.91
1
228090_at2 , 3
U133-B
1
0.91
1.00
--
--
AW249913
0.60
1.00
0.82
1
243738_at2 , 3
U133-B
1
0.55
1.00
--
--
AW172570
0.60
1.00
0.82
1
228090_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
243738_at2
U133Plus2
1
0.55
1.00
--
--
--
--
--
--
--
About this table
NMNAT3 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.208673 UniProtKB/Swiss-Prot: NMNA3_HUMAN, Q96T66 Tissue specificity : Expressed in lung and spleen with lower levels in placenta and kidney
SABiosciences Custom PCR Arrays for NMNAT3
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Orthologsfor NMNAT3 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 NMNAT3 gene from 5/11 species (see all 11 )
About this table Species with no ortholog for NMNAT3 ENSEMBL Gene Tree for NMNAT3 (if available)
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Paralogsfor NMNAT3 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for NMNAT3 gene NMNAT2 2 NMNAT1 2
NMNAT3 for paralogs About GeneDecksing
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Genomic Variantsfor NMNAT3 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 3 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for NMNAT3 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for NMNAT3: --
QIAGEN SeqTarget long-range PCR primers for resequencing NMNAT3
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Disorders & Mutationsfor NMNAT3 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
NMNAT3 for disorders About GeneDecksing
OMIM: 608702 Export disorders and mutations for NMNAT3 gene to outside databases
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Medical Newsfor NMNAT3 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor NMNAT3 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 PubMed articles for NMNAT3 gene integrated from 7 sources : (articles sorted by number of sources associating them with NMNAT3) Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis. (PubMed id 12574164) 1 , 2 , 3 Zhang X....Zhang H. (2003) Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis. (PubMed id 17402747) 1 , 2 Sorci L.... Magni G. (2007) Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms. (PubMed id 16118205) 1 , 2 Berger F.... Ziegler M. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Unique expression pattern of human nicotinamide monon ucleotide adenylyltransferase isozymes in red blood cells. (PubMed id 20457531) 1 Di Stefano M....Magni G. (2010) Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases. (PubMed id 20388704) 1 Lau C....Ziegler M. (2010) Enzymology of NAD+ homeostasis in man. (PubMed id 14704851) 1 Magni G....Ruggieri S. (2004) Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin. (PubMed id 11788603) 1 Zhou T.... Zhang H. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id ) 2 Aoki H.... Hino O. (2000)
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External Searches for NMNAT3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing NMNAT3 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 NMNAT3 gene
(According to HUGE )
About This Section --
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Specialized Databases showing NMNAT3 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 NMNAT3 gene: Search GeneIP for patents involving NMNAT3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor NMNAT3 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 NMNAT3
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