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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAT8L Gene

protein-coding   GIFtS: 45
GCID: GC04P002061

N-acetyltransferase 8-like (GCN5-related, putative)

(Previous name: N-acetyltransferase 8-like )
 Explore 5 diseases affiliated with
NAT8L via our new
 Human Malady Compendium 
Biological research products
for NAT8L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
N-Acetyltransferase 8-Like (GCN5-Related, Putative)1 2     N-Acetyltransferase 8-Like1
Camello-Like Protein 32 3     NACED2
CML32 3     NAT8-LIKE2
NAA Synthetase2 3     N-Acetylaspartate Synthetase2
FLJ374781     EC 2.3.1.173
Hcml31     N-Acetyltransferase 8-Like Protein3

External Ids:    HGNC: 267421   Entrez Gene: 3399832   Ensembl: ENSG000001858187   OMIM: 6106475   UniProtKB: Q8N9F03   

Export aliases for NAT8L gene to outside databases

Previous GC identifer: GC04P002031


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

Entrez Gene summary for NAT8L:
This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of
N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific
protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and
acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene
mutation results in primary NAA deficiency (hypoacetylaspartia). (provided by RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Function: Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific
metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance
of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates
methamphetamine-induced inhibition of dopamine uptake




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAT8L gene promoter:
         Max1   ER-alpha   HSF1 (long)   LCR-F1   Egr-4   Roaz   MZF-1   Pax-3   HSF1short   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NAT8L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAT8L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

NAT8L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAT8L gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P002061:  view genomic region     (about GC identifiers)

Start:
2,061,239 bp from pter      End:
2,070,816 bp from pter
Size:
9,578 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0 (See protein sequence)
Recommended Name: N-acetylaspartate synthetase  
Size: 302 amino acids; 32837 Da
Subcellular location: Cytoplasm. Membrane; Single-pass membrane protein (Potential). Microsome membrane; Single-pass
membrane protein (By similarity). Mitochondrion membrane; Single-pass membrane protein. Rough endoplasmic reticulum
membrane; Single-pass membrane protein (By similarity). Note=Its enzymatic activity contribution is quantitatively
larger in mitochondrial compartment than in extramitochondrial compartment
Sequence caution: Sequence=AAH93906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH93908.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI03749.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04426.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=CAM15218.1; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for NAT8L: NX_Q8N9F0

NAT8L Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_848652.2  
ENSEMBL proteins: 
 ENSP00000328464   ENSP00000413064  

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Uscn Proteins for NAT8L

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA19524112
GO:0005789endoplasmic reticulum membrane ----
GO:0005792microsome ----
GO:0016021integral to membrane IEA--
GO:0030867rough endoplasmic reticulum membrane IEA--


NAT8L for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NAT8L for domains           About GeneDecksing

2 InterPro domains/families:
 IPR000182 GNAT_dom
 IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q8N9F0

ProtoNet protein and cluster: Q8N9F0

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Similarity: Belongs to the camello family
Similarity: Contains 1 N-acetyltransferase domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Function: Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific
metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance
of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates
methamphetamine-induced inhibition of dopamine uptake
Catalytic activity: Acetyl-CoA + L-aspartate = CoA + N-acetyl-L-aspartate
Enzyme regulation: Aminooxyacetic acid (AOAA) blocks its activity in both cytoplasm and mitochondria
Induction: By methamphetamine in brain, via dopamine receptor activation (at protein level)

Enzyme Number (IUBMB): EC 2.3.1.171

miRNA
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8/76 QIAGEN miScript miRNA Assays for microRNAs that regulate NAT8L (see all 76):
hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-759 hsa-miR-3916 hsa-miR-3148 hsa-miR-34c-5p hsa-miR-548o
SwitchGear 3'UTR luciferase reporter plasmidNAT8L 3' UTR sequence
Inhib. RNA
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0017188aspartate N-acetyltransferase activity IDA19524112


NAT8L for ontologies           About GeneDecksing


2 GenomeRNAi human phenotypes for NAT8L:
 Increased gamma-H2AX phosphory  Increased number of cells in m 

Animal Models:
     Mouse knock-out Nat8ltm1Atni for NAT8L
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nat8l):
 behavior/neurological 

NAT8L for phenotypes           About GeneDecksing


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Biological oxidations
metapathway biotransformation0.41


1 BioSystems Pathway for NAT8L 
    metapathway biotransformation


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAT8L

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0051586positive regulation of dopamine uptake involved in synaptic transmission IEA--


NAT8L for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NAT8L
Search CenterWatch for drugs/clinical trials and news about NAT8L 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NAT8L gene: 
NM_178557.3  

Unigene Cluster for NAT8L:

N-acetyltransferase 8-like (GCN5-related, putative)
Hs.318529  [show with all ESTs]
Unigene Representative Sequence: NM_178557
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000331662 ENST00000423729(uc003geq.2)

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8/76 QIAGEN miScript miRNA Assays for microRNAs that regulate NAT8L (see all 76):
hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-759 hsa-miR-3916 hsa-miR-3148 hsa-miR-34c-5p hsa-miR-548o
SwitchGear 3'UTR luciferase reporter plasmidNAT8L 3' UTR sequence
Inhib. RNA
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Clone
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GenScript: all cDNA clones in your preferred vector: NAT8L (NM_178557)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT8L 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NAT8L
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAT8L

Additional cDNA sequence: 

AK094797.1 AL137326.1 AL137444.1 BC010045.2 BC093906.1 BC093908.1 BC103748.1 

3 DOTS entries:

DT.425156  DT.92037245  DT.100657725 

24/90 AceView cDNA sequences (see all 90):

BG222544 BF363480 BQ950958 BQ926344 AI565540 AI871391 BM692785 BE222771 
AL137326 AI890566 AL137444 BE378463 BQ882031 BG911941 CD105803 BE781941 
AL041933 CD513265 BM557912 CA416620 BE275376 CA406507 CD106734 BQ934976 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NAT8L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGTGCGAGTG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See NAT8L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NAT8L

SOURCE GeneReport for Unigene cluster: Hs.318529

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
Tissue specificity: Expressed in brain

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAT8L

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NAT8L gene from 4/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nat8l1 , 5 N-acetyltransferase 8-like1, 5 90.52(n)1
94.65(a)1
  5 (17.83 cM)5
2696421  NM_001001985.31  NP_001001985.31 
 339959845 
chicken
(Gallus gallus)
Aves NAT8L1 N-acetyltransferase 8-like (GCN5-related, putative) 76.14(n)
77.05(a)
  422893  XM_420835.3  XP_420835.3 
lizard
(Anolis carolinensis)
Reptilia NAT8L6
--
69(a)
1 ↔ 1
GL343297.1(194029-236383)
zebrafish
(Danio rerio)
Actinopterygii sbcb5622 sbcb562 78.21(n)   368296  BI428117.1 


ENSEMBL Gene Tree for NAT8L (if available)
TreeFam Gene Tree for NAT8L (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NAT8L gene
NAT82  
2 SIMAP similar genes for NAT8L using alignment to 1 protein entry:     NAT8L_HUMAN:
NAT8B    NAT8

NAT8L for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NAT8L
     1 CNV: 68620
Human Gene Mutation Database (HGMD): NAT8L
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NAT8L
DNA2.0 Custom Variant and Variant Library Synthesis for NAT8L

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NAT8L for disorders           About GeneDecksing

OMIM gene information: 610647    OMIM disorders: --

UniProtKB/Swiss-Prot: NAT8L_HUMAN, Q8N9F0
  • Defects in NAT8L are the cause of N-acetylaspartate deficiency (NACED) [MIM:614063]. A metabolic disorder
  • resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly

    5 diseases for NAT8L:    About MalaCards
    neuronitis    metabolic disorders    microcephaly    ataxia
    neuroblastoma


    Export disorders for NAT8L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAT8L gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with NAT8L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PubMed id 11397015)1, 2, 3 Popsueva A.E....Belyavsky A.V. (2001)
    2. Methamphetamine-induced neuronal protein NAT8L is the NAA biosynthetic enzyme: implications for specialized acetyl coenzyme A metabo lism in the CNS. (PubMed id 20385109)1, 2 Ariyannur P.S....Namboodiri A.M. (2010)
    3. Molecular identification of aspartate N-acetyltransfe rase and its mutation in hypoacetylaspartia. (PubMed id 19807691)1, 2 Wiame E....van Schaftingen E. (2010)
    4. Evidence for mitochondrial and cytoplasmic N-acetylas partate synthesis in SH-SY5Y neuroblastoma cells. (PubMed id 19524112)1, 2 Arun P....Namboodiri A.M. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Determinants of the enzymatic activity and the subcel lular localization of aspartate N-acetyltransferase. (PubMed id 21936773)1 Tahay G....Van Schaftingen E. (2012)
    7. Molecular characterization of N-acetylaspartylglutama te synthetase. (PubMed id 20643647)1 Becker I....Eckhardt M. (2010)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)2 Brandenberger R.... Stanton L.W. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 339983 HGNC: 26742 AceView: FLJ37478 Ensembl:ENSG00000185818 euGenes: HUgn339983
    ECgene: NAT8L H-InvDB: NAT8L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAT8L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAT8L gene:
    Search GeneIP for patents involving NAT8L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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     Browse OriGene Antibodies   OriGene shRNA RFP for NAT8L  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAT8L   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NAT8L  
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     GenScript Custom Purified and Recombinant Proteins Services for NAT8L GenScript cDNA clones with any tag delivered in your preferred vector for NAT8L
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT8L
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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