MYOZ3 Gene
protein-coding GIFtS : 48
GCID: GC05 P150020
myozenin 3
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Aliasesfor MYOZ3 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Myozenin 3 1 2 FATZ-Related Protein 32 3 FRP31 2 3 5 Calsarcin-33 CS-31 2 Myozenin-31 CS31 2 Calsarcin-33
Export aliases for MYOZ3 gene to outside databases Previous GC identifers: GC05P150109 GC05P150638 GC05P150068 GC05P145186
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Summariesfor MYOZ3 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 MYOZ3 : The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. (provided by RefSeq, Apr 2012) UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0 Function : Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such asalpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis
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Genomic Viewsfor MYOZ3 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_000005.9 NC_018916.1 NT_029289.11 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MYOZ3 gene promoter: SRF E2F-3a E2F-4 E2F-5 SRF (504 AA) AP-4 E2F-2 E2F E2F-1 Zic3 Other transcription factors Search SABiosciences Chromatin IP Primers for MYOZ3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOZ3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 5q33.1 Ensembl cytogenetic band: 5q33.1 HGNC cytogenetic band: 5q33.2 MYOZ3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05P150020: view genomic region
(about GC identifiers )
Start:
150,040,404 bp from pter
End:
150,058,927 bp from pter
Size:
18,524 bases
Orientation:
plus strand
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Proteinsfor MYOZ3 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: MYOZ3_HUMAN, Q8TDC0 (See
protein sequence )Recommended Name: Myozenin-3 Size : 251 amino acids; 27157 Da
Subunit : Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP
Subcellular location : Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localized at the Z-line of skeletalmuscle (By similarity)
Secondary accessions : B2R9Q4 D3DQG9 Q8IVM1 Q8IVN1Alternative splicing : 3 isoforms : Q8TDC0-1 Q8TDC0-2 Q8TDC0-3 Explore the universe of human proteins at neXtProt for MYOZ3: NX_Q8TDC0 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8TDC0 MYOZ3 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001116325.1 NP_588612.2 ENSEMBL proteins: ENSP00000428815 ENSP00000297130 ENSP00000430913 ENSP00000429439 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0030018 Z disc
IEA --
MYOZ3 for ontologies About GeneDecksing MYOZ3 Antibody Products: Assay Products for MYOZ3:
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Protein
Domains / Familiesfor MYOZ3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MYOZ3 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q8TDC0 ProtoNet protein and cluster: Q8TDC0
UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0 Similarity : Belongs to the myozenin family
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Functionfor MYOZ3 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: MYOZ3_HUMAN, Q8TDC0 Function : Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such asalpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis
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 MYOZ3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYOZ3 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MYOZ3 (NM_133371 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYOZ3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYOZ3
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ3
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
MYOZ3 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for MYOZ3 :
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Pathways & Interactionsfor MYOZ3 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 MYOZ3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)5/10 Interacting proteins for MYOZ3 (Q8TDC0 2 , 3 ENSP00000297130 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 10 )About this table
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Drugs & Compoundsfor MYOZ3 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 MYOZ3 Search CenterWatch for drugs/clinical trials and news about MYOZ3
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Transcriptsfor MYOZ3 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 MYOZ3 gene (2 alternative transcripts): NM_001122853.2 NM_133371.4 Unigene Cluster for MYOZ3:
Myozenin 3 Hs.91626 [show with all ESTs ] Unigene Representative Sequence: NM_001122853 8 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000517768 ENST00000297130 (uc003lss.2 uc003lsr.2 ) ENST00000517861 ENST00000524256 ENST00000521300 ENST00000523553 ENST00000520112 ENST00000456566 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MYOZ3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYOZ3 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MYOZ3 (NM_133371 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYOZ3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYOZ3
Additional cDNA sequence: AF480443.1 AJ277961.1 AJ300586.1 AJ300587.1 AK056449.1 AK313873.1 BC069380.1 BC069553.1 BC074870.2 BC074871.2
6 DOTS entries : DT.410817 DT.75146460
DT.120890273 DT.40198257 DT.100689073 DT.91720127 24/273 AceView cDNA sequences (see all 273 ):
BQ023492 BQ899749 BE274201 AJ572728 AK091066 F29853 AJ346453 AW732550 AJ346805 BF926053 AA397825 N62311 BF338936 NM_007286 Y11072 BF871740 AF499136 AB028952 AJ300587 AA302622 AF499137 AI804447 AJ573002 AI956138 GeneLoc Exon Structure
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Expression for MYOZ3 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 MYOZ3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AGCTGAAGAC
About this image MYOZ3 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table Stem Cell Differentiation: 1 LifeMap Cell Name Category PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See MYOZ3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MYOZ3 SOURCE GeneReport for Unigene cluster: Hs.91626 UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0 Tissue specificity : Expressed specifically in skeletal muscle. Not detected in heart SABiosciences Custom PCR Arrays for MYOZ3 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MYOZ3Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat MYOZ3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MYOZ3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MYOZ3 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ3
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Orthologsfor MYOZ3 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 MYOZ3 gene from 4/9 species (see all 9 ) About this table
ENSEMBL Gene Tree for MYOZ3 (if available)TreeFam Gene Tree for MYOZ3 (if available)
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Paralogsfor MYOZ3 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MYOZ3 gene MYOZ1 2 MYOZ2 2
MYOZ3 for paralogs About GeneDecksing
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Genomic Variantsfor MYOZ3 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 5 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for MYOZ3 (150040404 - 150058927 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for MYOZ3 3 CNVs : 69223 7477 3580
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MYOZ3
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Disorders
/ Diseasesfor MYOZ3 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
MYOZ3 for disorders About GeneDecksing
OMIM gene information: 610735
OMIM disorders : --3 diseases for MYOZ3 : About MalaCards shigellosis diarrhea myopathy Human Genome Epidemiology (HuGE) Navigator: MYOZ3 (1 document)Export disorders for MYOZ3 gene to outside databases
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Publicationsfor MYOZ3 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for MYOZ3 gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with MYOZ3) Utopia : connect your pdf to the dynamic world of online information
Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093) 1 , 2 , 3, 9 Frey N. and Olson E.N. (2002) 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) A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206) 1 Vinayagam A....Wanker E.E. (2011) Candidate-gene testing for orphan limb-girdle muscula r dystrophies. (PubMed id 19472918) 1 Aurino S....Nigro V. (2008) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556) 1 Suzuki Y.... Sugano S. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022) 2 Schmutz J.... Rubin E.M. (2004) 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) ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098) 1 Faulkner G.... Lanfranchi G. (1999)
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External Searches for MYOZ3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MYOZ3 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 MYOZ3 gene
(According to HUGE )
About This Section --
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Specialized Databases showing MYOZ3 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
Name Description
PharmGKB entry for MYOZ3 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for MYOZ3 gene: Search GeneIP for patents involving MYOZ3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MYOZ3 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
Browse OriGene Antibodies OriGene shRNA RFP for MYOZ3 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for MYOZ3 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MYOZ3 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MYOZ3 OriGene 3'-UTR Clone for MYOZ3 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MYOZ3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MYOZ3 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MYOZ3 OriGene Custom Protein Services for MYOZ3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MYOZ3 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MYOZ3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOZ3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat MYOZ3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MYOZ3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MYOZ3
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MYOZ3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ3
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MYOZ3
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