HSPB3 Gene
protein-coding GIFtS : 50
GCID: GC05 P053787
heat shock 27kDa protein 3 (Previous name: heat shock 27kD protein 3 )
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Aliasesfor HSPB3 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 Heat Shock 27kDa Protein 3 1 2 HMN2C2 5 HSPL271 2 3 5 Heat Shock 27kD Protein 31 Heat Shock 17 KDa Protein2 3 Heat Shock Protein Beta-32 Protein 32 3 HSP273 HSP 172 3 HspB33 DHMN2C2 5
Export aliases for HSPB3 gene to outside databases Previous GC identifers: GC05P053915 GC05P055181 GC05P053721 GC05P053767 GC05P050725
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Summariesfor HSPB3 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 HSPB3 : This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.(provided by RefSeq, Sep 2010) UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988 Function : Inhibitor of actin polymerization
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Genomic Viewsfor HSPB3 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_006713.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HSPB3 gene promoter: Tal-1 MyoD CUTL1 POU6F1 (c2) Tal-1beta NF-E2 p45 Meis-1b E47 NF-E2 Other transcription factors Search SABiosciences Chromatin IP Primers for HSPB3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSPB3
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 5q11.2 Ensembl cytogenetic band: 5q11.2 HGNC cytogenetic band: 5q11.2 HSPB3 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 GC05P053787: view genomic region
(about GC identifiers )
Start:
53,751,445 bp from pter
End:
53,752,207 bp from pter
Size:
763 bases
Orientation:
plus strand
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Proteinsfor HSPB3 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: HSPB3_HUMAN, Q12988 (See
protein sequence )Recommended Name: Heat shock protein beta-3 Size : 150 amino acids; 16966 Da
Subcellular location : Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shockExplore the universe of human proteins at neXtProt for HSPB3: NX_Q12988 HSPB3 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_006299.1 ENSEMBL proteins: ENSP00000303394 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
HSPB3 for ontologies About GeneDecksing HSPB3 Antibody Products: Assay Products for HSPB3:
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Protein
Domains / Familiesfor HSPB3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HSPB3 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q12988 ProtoNet protein and cluster: Q12988
1 Blocks protein family : IPB002068 Heat shock protein Hsp20 UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988 Similarity : Belongs to the small heat shock protein (HSP20) family
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Functionfor HSPB3 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: HSPB3_HUMAN, Q12988 Function : Inhibitor of actin polymerization
Genatlas biochemistry entry for HSPB3 : heat shock protein 3 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 HSPB3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPB3OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HSPB3 (NM_006308 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSPB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HSPB3
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB3
1 GenomeRNAi human phenotype for HSPB3 :Animal Models: 1 MGI phenotypic allele for Hspb3 (no phenotypes)
HSPB3 for phenotypes About GeneDecksing
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Pathways & Interactionsfor HSPB3 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: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSPB3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)5/28 Interacting proteins for HSPB3 (Q12988 2 , 3 ENSP00000303394 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 28 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
HSPB3 for ontologies About GeneDecksing
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Drugs & Compoundsfor HSPB3 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 HSPB3 Search CenterWatch for drugs/clinical trials and news about HSPB3
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Transcriptsfor HSPB3 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
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SwitchGear Genomics ,
GenScript ,
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Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for HSPB3 gene: NM_006308.2 Unigene Cluster for HSPB3:
Heat shock 27kDa protein 3 Hs.41707 [show with all ESTs ] Unigene Representative Sequence: NM_006308 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000302005 (uc003jph.2 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HSPB3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPB3OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HSPB3 (NM_006308 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSPB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HSPB3
Additional cDNA sequence: AK314215.1 BC126272.1 BC132869.1 CR450314.1 U15590.1 Y17782.1
2 DOTS entries : DT.314824 DT.120848739
24/37 AceView cDNA sequences (see all 37 ):
AI204315 CR450314 BM719542 AA136048 BX106905 AI275037 BF002760 BM930611 AA476830 AA429090 AI333690 AA426507 NM_006308 U15590 Y17782 BP347482 W21483 W21042 AI224915 N74099 AA126678 N88299 N74672 AA649552 GeneLoc Exon Structure
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Expression for HSPB3 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 HSPB3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image HSPB3 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See HSPB3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HSPB3 SOURCE GeneReport for Unigene cluster: Hs.41707 SABiosciences Expression via Pathway-Focused PCR Arrays including HSPB3 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HSPB3Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HSPB3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HSPB3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HSPB3 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB3
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Orthologsfor HSPB3 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 animals.
Orthologs for HSPB3 gene from 5/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for HSPB3 (if available)TreeFam Gene Tree for HSPB3 (if available)
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Paralogsfor HSPB3 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for HSPB3 gene CRYAA 2 HSPB1 2 CRYAB 2 HSPB2-C11orf52 2 HSPB8 2 HSPB2 2 HSPB6 2 5 SIMAP similar genes for HSPB3 using alignment to 2 protein entries: HSPB3_HUMAN (see all proteins ):CRYAA HSPB1 CRYAB HSPB2 HSPB6
HSPB3 for paralogs About GeneDecksing
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Genomic Variantsfor HSPB3 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 HSPB3 (53751445 - 53752207 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for HSPB3: -- Human Gene Mutation Database (HGMD) : HSPB3 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HSPB3
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Disorders
/ Diseasesfor HSPB3 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
HSPB3 for disorders About GeneDecksing OMIM gene information: 604624 OMIM disorders : 613376 UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988
Defects in HSPB3 are the cause of distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376]. It is a neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs 7 diseases for HSPB3 : About MalaCards distal hereditary motor neuropathy inclusion body myositis motor neuronopathy muscular atrophy myositis neuropathy hermaphroditism Export disorders for HSPB3 gene to outside databases
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Publicationsfor HSPB3 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 HSPB3 gene, integrated from 9 sources (see all 11 ): (articles sorted by number of sources associating them with HSPB3) Utopia : connect your pdf to the dynamic world of online information
HspB3, the most deviating of the six known human small heat shock proteins. (PubMed id 9858786) 1 , 2 , 3, 9 Boelens W.C.... de Jong W.W. (1998) Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family -- HSPL27. (PubMed id 8972725) 1 , 2 , 3 Lam W.Y....Waye M.M.Y. (1996) Mutant small heat shock protein B3 causes motor neuro pathy: utility of a candidate gene approach. (PubMed id 20142617) 1 , 2 Kolb S.J....Prior T.W. (2010) HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326) 1 , 2 Vos M.J....Kampinga H.H. (2009) Structural aspects and chaperone activity of human Hsp B3: role of the 'C-terminal extension'. (PubMed id 22610661) 1 Asthana A....Rao C.h.M. (2012) A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070) 1 Stelzl U.... Wanker E.E. (2005) Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3. (PubMed id 16225851) 1 Fontaine J.M....Welsh M.J. (2005) 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) Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation. (PubMed id 10625651) 1 Sugiyama Y....Ohno S. (2000) The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. (PubMed id 12820654) 9 KappAc G....de Jong W.W. (2003)
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External Searches for HSPB3 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HSPB3 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 HSPB3 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HSPB3 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 HSPB3 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HSPB3 gene: Search GeneIP for patents involving HSPB3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HSPB3 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 HSPB3 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HSPB3 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HSPB3 OriGene Protein Over-expression Lysate for HSPB3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HSPB3 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPB3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HSPB3 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 HSPB3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HSPB3 OriGene Custom Protein Services for HSPB3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HSPB3 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HSPB3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSPB3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HSPB3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HSPB3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HSPB3
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HSPB3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB3
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HSPB3
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Aliases for HSPB3
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