OPA3 Gene
protein-coding GIFtS: 47
GCID: GC19M046031
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optic atrophy 3 (autosomal recessive, with chorea and spastic...
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Aliases for OPA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
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| Optic Atrophy 3 (Autosomal Recessive, With Chorea And SpasticParaplegia)1 2 | | MGA31 2 5 | | FLJ221871 | | Optic Atrophy 3 (Iraqi-Jewish 'Optic Atrophy Plus')2 | | Optic Atrophy 3 Protein2 |
Export aliases for OPA3 gene to outside databasesPrevious GC identifers: GC19M046699 GC19M046421 GC19M050706 GC19M050722 GC19M050747 GC19M042461 |
Summaries for OPA3 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 OPA3: The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have beenshown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multipletranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2009) UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4Function: May play some role in mitochondrial processes Gene Wiki entry for OPA3
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Genomic Views for OPA3 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_000019.9 NC_018930.1 NT_011109.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the OPA3 gene promoter: AP-2rep NF-1 AML1a Sp1 GATA-1 Arnt GATA-2 ZIC2/Zic2 Other transcription factors
Search SABiosciences Chromatin IP Primers for OPA3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPA3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.2-q13.3OPA3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M046031: view genomic region
(about GC identifiers)
Start:
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46,030,685 bp from pter |
End:
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46,105,470 bp from pter |
Size:
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74,786 bases |
Orientation:
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minus strand |
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Proteins for OPA3 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: OPA3_HUMAN, Q9H6K4 (See
protein sequence)Recommended Name: Optic atrophy 3 protein Size: 179 amino acids; 19996 Da
Subcellular location: Mitochondrion (Probable)
Secondary accessions: Q6P384 Q8N784Alternative splicing: 2 isoforms: Q9H6K4-1 Q9H6K4-2 (Ref.2 (BAC05415) sequence is in conflict in position: 130:G->E)Explore the universe of human proteins at neXtProt for OPA3: NX_Q9H6K4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H6K4 OPA3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001017989.2 NP_079412.1 ENSEMBL proteins: ENSP00000319817 ENSP00000263275 ENSP00000442839 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
OPA3 for ontologies About GeneDecksing
OPA3 Antibody Products: Assay Products for OPA3: |
Protein
Domains / Families for OPA3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OPA3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H6K4ProtoNet protein and cluster: Q9H6K4 1 Blocks protein family: IPB010754 Optic atrophy 3
UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4Similarity: Belongs to the OPA3 family |
Function for OPA3 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
| Function Summary: UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4Function: May play some role in mitochondrial processes
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 OPA3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPA3 (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): OPA3 (NM_025136) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA3  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA3 |
1 GenomeRNAi human phenotype for OPA3: Animal Models: 13 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Opa3):
OPA3 for phenotypes About GeneDecksing
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Pathways & Interactions for OPA3 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 OPA3
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
OPA3 for ontologies About GeneDecksing
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Drugs & Compounds for OPA3 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
|
OPA3 for compounds About GeneDecksing
Browse Tocris compounds for OPA3 1 Novoseek chemical compound relationship for OPA3 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 3-methylglutaconic acid |
96.4 |
1 |
20350831 (1) |
Search CenterWatch for drugs/clinical trials and news about OPA3 
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Transcripts for OPA3 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 OPA3 gene (2 alternative transcripts): NM_001017989.2 NM_025136.3 Unigene Cluster for OPA3: Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Hs.466945 [show with all ESTs]Unigene Representative Sequence: NM_0251363 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000323060(uc002pcj.4) ENST00000263275(uc002pck.4 uc010xxk.2) ENST00000544371
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OPA3 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OPA3 (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): OPA3 (NM_025136) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for OPA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA3  |
Additional cDNA sequence: AK025840.1 AK098798.1 AK296429.1 BC005059.1 BC047316.1 BC064146.1 13 DOTS entries: DT.40198663 DT.100677851 DT.100754455 DT.95228567 DT.100700817 DT.100686228 DT.40250356 DT.91736985 DT.100737665 DT.100733332 DT.100766382 DT.121499779 DT.406032 24/74 AceView cDNA sequences (see all 74): BC064146 BU501496 BQ013305 AI087335 BC047316 BU164977 CA306826 BM727436 BM464645 BI768149 BM126314 BP341595 AI143727 BE336754 BG832005 BE206133 CD110193 CK818906 BG396192 AI275146 BC005059 BX498648 BU740898 NM_025136 GeneLoc Exon Structure
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Expression for OPA3 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
| OPA3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See OPA3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for OPA3
SOURCE GeneReport for Unigene cluster: Hs.466945 UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4Tissue specificity: Ubiquitous. Most prominent expression in skeletal muscle and kidney SABiosciences Custom PCR Arrays for OPA3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OPA3 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat OPA3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPA3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPA3 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA3 |
Orthologs for OPA3 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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This gene was present in the common ancestor of eukaryotes.
Orthologs for OPA3 gene from 7/21 species (see all 21) About this table
ENSEMBL Gene Tree for OPA3 (if available) TreeFam Gene Tree for OPA3 (if available)  |
Paralogs for OPA3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
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Genomic Variants for OPA3 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 19 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for OPA3 (46030685 - 46105470 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for OPA3: -- Human Gene Mutation Database (HGMD): OPA3
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPA3 |
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Disorders
/ Diseases for OPA3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
OPA3 for disorders About GeneDecksing
OMIM gene information: 606580 OMIM disorders: 258501 165300 UniProtKB/Swiss-Prot: OPA3_HUMAN, Q9H6K4
Defects in OPA3 are the cause of 3-methylglutaconic aciduria type 3 (MGA3) [MIM:258501]; also known as opticatrophy plus syndrome or Costeff optic atrophy syndrome. MGA3 is an autosomal recessive neuro-ophthalmologic syndromeconsisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction, and cognitive deficit.Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGA3 can be distinguished fromMGA1 by the absence of increase of 3-hydroxyisovaleric acid levels Defects in OPA3 are the cause of optic atrophy type 3 (OPA3) [MIM:165300]; also known as autosomal dominantoptic atrophy and cataract (ADOAC) or cataract, optic atrophy and neurologic disorder. Hereditary optic atrophy form aheterogeneous group of disorders. The autosomal dominant forms are characterized by an insidious onset of visualimpairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color visiondeficits and centrocecal scotoma of variable density 20/21 diseases for OPA3 (see all 21): About MalaCardsoptic atrophy 3-methylglutaconic aciduria optic atrophy and cataract spastic paraplegia 3-methylglutaconic aciduria type 3 chorea cataract marinesco-sjogren syndrome paraplegia leigh-like syndrome leber hereditary optic neuropathy spasticity behr syndrome scotoma myotonic dystrophy sjogren's syndrome wolfram syndrome neuropathy retinal disease retinitis
2 diseases from the University of Copenhagen DISEASES database for OPA3:Optic atrophy Leber hereditary optic neuropathy 2 Novoseek disease relationships for OPA3 gene About this table
GeneTests: OPA3 3-Methylglutaconic Aciduria Type 3 Human Genome Epidemiology (HuGE) Navigator: OPA3 (4 documents) Export disorders for OPA3 gene to outside databases
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Publications for OPA3 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 OPA3 gene, integrated from 9 sources (see all 31): (articles sorted by number of sources associating them with OPA3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. (PubMed id 11668429)1, 2, 3, 9 Anikster Y.... Elpeleg O. (2001)
- OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. (PubMed id 15342707)1, 2 Reynier P....Bonneau D. (2004)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. (PubMed id 9097959)1, 3 Nystuen A....Sheffield V.C. (1997)
- OPA3, mutated in 3-methylglutaconic aciduria type III , encodes two transcripts targeted primarily to mitochondria. (PubMed id 20350831)1, 9 Huizing M....Anikster Y. (2010)
- [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] (PubMed id 16838891)1, 9 Fink N. and Mouallem M. (2006)
- Genome-wide association study of comorbid depressive s yndrome and alcohol dependence. (PubMed id 22064162)1 Edwards A.C....Dick D.M. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
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External Searches for OPA3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing OPA3 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 OPA3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OPA3 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 OPA3 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA3 |
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About This Section
| Patent Information for OPA3 gene: Search GeneIP for patents involving OPA3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for OPA3 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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variant library, vector shuttling | | OriGene Custom Antibody Services for OPA3 | | OriGene Custom Protein Services for OPA3 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OPA3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OPA3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPA3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OPA3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OPA3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OPA3 |
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| | | Search Tocris compounds for OPA3 |
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 | | OPA3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OPA3 |
|  |  |  | | | Search ThermoFisher Antibodies for OPA3 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OPA3 |
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