PNMA1 Gene
protein-coding GIFtS: 47
GCID: GC14M074178
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paraneoplastic Ma antigen 1(Previous name: paraneoplastic antigen MA1 )
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Aliases for PNMA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Paraneoplastic Ma Antigen 11 2 | | MA11 2 3 | | Paraneoplastic Antigen MA11 2 | | Neuron- And Testis-Specific Protein 12 3 | | 37 KDa Neuronal Protein2 3 | | Paraneoplastic Neuronal Antigen MA12 |
Export aliases for PNMA1 gene to outside databasesPrevious GC identifers: GC14M071683 GC14M067974 GC14M072168 GC14M072139 GC14M073248 GC14M054345 |
Summaries for PNMA1 gene(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 PNMA1: The PNMA1 gene encodes an antineuronal antibody (anti-Ma) present in patients with paraneoplastic neurologic disorders(Dalmau et al., 1999 (PubMed 10050892)). Some paraneoplastic syndromes affecting the nervous system are associatedwith antibodies that react with neuronal proteins and the causal tumor (onconeuronal antigens) (summarized by Dalmauet al., 1999 (PubMed 10050892)). Several of these antibodies are markers of specific neurologic syndromes associatedwith distinct types of cancer. The presence of some antibodies is so specific that disorders previously identified bybrain biopsy or at autopsy can be diagnosed serologically. The expression of neuronal proteins by the tumor appears tobe a crucial step that breaks the immune tolerance for otherwise normal neuronal proteins. The identity of mostonconeuronal antigens was established by probing human cDNA expression libraries with serum containing antineuronalantibodies.(supplied by OMIM, May 2010)
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Genomic Views for PNMA1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PNMA1 gene promoter: E2F-3a E2F-4 E2F-5 Brachyury HSF1 (long) E2F-2 E2F-1 E2F HSF1short ATF Other transcription factors
Search SABiosciences Chromatin IP Primers for PNMA1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNMA1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q24.3 Ensembl cytogenetic band: 14q24.3 HGNC cytogenetic band: 14q24.3PNMA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M074178: view genomic region
(about GC identifiers)
Start:
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74,178,486 bp from pter |
End:
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74,181,128 bp from pter |
Size:
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2,643 bases |
Orientation:
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minus strand |
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Proteins for PNMA1 gene
(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: PNMA1_HUMAN, Q8ND90 (See
protein sequence)Recommended Name: Paraneoplastic antigen Ma1 Size: 353 amino acids; 39761 Da
Subcellular location: Nucleus, nucleolus. Note=In tumor cells, it is cytoplasmic
Miscellaneous: Antibodies against PNMA1 are present in sera from patients suffering of paraneoplastic neurologicaldisorders
Secondary accessions: A8K4L5 O95144 Q8NG07Explore the universe of human proteins at neXtProt for PNMA1: NX_Q8ND90
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8ND90 PNMA1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006020.4 ENSEMBL proteins: ENSP00000318914 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PNMA1 for ontologies About GeneDecksing
PNMA1 Antibody Products: Assay Products for PNMA1: |
Protein
Domains / Families for PNMA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PNMA1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8ND90ProtoNet protein and cluster: Q8ND90 UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90Similarity: Belongs to the PNMA family |
Function for PNMA1 gene
(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
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PNMA1 (NM_006029) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNMA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNMA1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNMA1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
PNMA1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PNMA1:
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Pathways & Interactions for PNMA1 gene
(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
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNMA1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/42 Interacting proteins for PNMA1 (Q8ND901, 2, 3 ENSP000003189144) via UniProtKB, MINT, STRING, and/or I2D (see all 42)| Interactant | Interaction Details |
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| GeneCard | External ID(s) |
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| LENG1 | Q96BZ82, 3, ENSP000002222244 | MINT-65001 I2D:
score=4 STRING: ENSP00000222224 | | MARK4 | Q96L341, 3, ENSP000003008434 | EBI-302345,EBI-302319 I2D:
score=4 STRING: ENSP00000300843 | | MSI1 | O433472, 3, ENSP000002575524 | MINT-64999 I2D:
score=4 STRING: ENSP00000257552 | | PARD3 | Q8TEW01, 3, ENSP000003639214 | EBI-302345,EBI-1221123 I2D:
score=4 STRING: ENSP00000363921 | | TNNT1 | P138052, 3, ENSP000002919014 | MINT-65000 I2D:
score=4 STRING: ENSP00000291901 | About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
PNMA1 for ontologies About GeneDecksing
|
Drugs & Compounds for PNMA1 gene(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 Tocris compounds for PNMA1 Search CenterWatch for drugs/clinical trials and news about PNMA1 
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Transcripts for PNMA1 gene(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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 PNMA1 gene: NM_006029.4 Unigene Cluster for PNMA1: Paraneoplastic Ma antigen 1 Hs.194709 [show with all ESTs]Unigene Representative Sequence: NM_0060291 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000316836(uc001xor.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PNMA1 (NM_006029) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PNMA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNMA1  |
Additional cDNA sequence: AF320308.1 AK290980.1 AL834327.1 BC039577.1 CR457112.1 8 DOTS entries: DT.100782775 DT.120745914 DT.100782772 DT.91770571 DT.100782770 DT.217399 DT.95071553 DT.97849392 24/257 AceView cDNA sequences (see all 257): AL834327 AI867610 AA927022 BM789715 AW167938 AA906688 AI359836 NM_006029 BM142572 BU786391 CD107293 C02540 BM262995 AA759312 BG059695 BC014926 AA316152 CA430481 AI361465 BM728866 AI288395 BE218047 BF590650 BU634381 GeneLoc Exon Structure
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Expression for PNMA1 gene
(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
| PNMA1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GAGAGGTTGA
About this image See PNMA1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PNMA1
SOURCE GeneReport for Unigene cluster: Hs.194709 UniProtKB/Swiss-Prot: PNMA1_HUMAN, Q8ND90Tissue specificity: Testis and brain specific. In some patients suffering from cancers, it is also specificallyexpressed by the paraneoplastic tumor cells SABiosciences Custom PCR Arrays for PNMA1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNMA1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PNMA1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNMA1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNMA1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNMA1 |
Orthologs for PNMA1 gene
(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
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ENSEMBL Gene Tree for PNMA1 (if available) TreeFam Gene Tree for PNMA1 (if available)  |
Paralogs for PNMA1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PNMA1 gene
- PNMA6A2 PNMA52 PNMA6D2 PNMA22 PNMA32 PNMA6C2 MOAP12 PNMAL22
- ZCCHC122 PNMAL12 PNMA6B2
11 SIMAP similar genes for PNMA1 using alignment to 2 protein entries: PNMA1_HUMAN (see all proteins):PNMA5 MOAP1 PNMA2 PNMAL1 PNMA3 PNMA6A PNMA6B PNMA6C PNMA6D ZCCHC12 ZCCHC18
PNMA1 for paralogs About GeneDecksing
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Genomic Variants for PNMA1 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 14 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for PNMA1 (74178486 - 74181128 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PNMA1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNMA1 |
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Disorders
/ Diseases for PNMA1 gene
(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
|
PNMA1 for disorders About GeneDecksing
OMIM gene information: 604010
OMIM disorders: --
10 diseases for PNMA1: About MalaCardsparaneoplastic neurologic disorders neuronitis paraneoplastic syndromes macular degeneration neurologic diseases encephalomyelitis encephalitis ataxia pancreatic cancer pancreatitis 1 disease from the University of Copenhagen DISEASES database for PNMA1:Encephalitis Export disorders for PNMA1 gene to outside databases
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Publications for PNMA1 gene (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 PNMA1 gene, integrated from 9 sources (see all 23): (articles sorted by number of sources associating them with PNMA1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders. (PubMed id 10050892)1, 2, 3 Dalmau J.... Rosenfeld M.R. (1999)
- The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PubMed id 16214224)1, 2 Schueller M.... Voltz R. (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)
- Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. (PubMed id 18654987)1 Thalappilly S....Dusetti N.J. (2008)
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External Searches for PNMA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PNMA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PNMA1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PNMA1 gene(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
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About This Section
| Patent Information for PNMA1 gene: Search GeneIP for patents involving PNMA1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for PNMA1 gene(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 PNMA1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNMA1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PNMA1 | | OriGene Protein Over-expression Lysate for PNMA1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PNMA1 | | OriGene 3'-UTR Clone for PNMA1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNMA1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for PNMA1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PNMA1 | | OriGene Custom Protein Services for PNMA1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PNMA1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNMA1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNMA1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNMA1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNMA1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNMA1 |
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 | | PNMA1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNMA1 |
|  |  |  | | | Search ThermoFisher Antibodies for PNMA1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNMA1 |
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