MT-CO3 Gene
protein-coding GIFtS: 40
GCID: GCMTP009209
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mitochondrially encoded cytochrome c oxidase III(Previous name: cytochrome c oxidase III ) (Previous symbol: MTCO3)
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Aliases for MT-CO3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Mitochondrially Encoded Cytochrome C Oxidase III1 | | CO31 | | COIII1 2 3 | | Cytochrome C Oxidase Subunit III2 | | MTCO31 2 3 | | COXIII3 | | COX31 2 | | Cytochrome C Oxidase Polypeptide III3 | | Cytochrome C Oxidase III1 2 | | EC 1.9.3.18 |
Export aliases for MT-CO3 gene to outside databasesPrevious GC identifer: GC00U921585 |
Summaries for MT-CO3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: COX3_HUMAN, P00414Function: Subunits I, II and III form the functional core of the enzyme complex Gene Wiki entry for MT-CO3
|
Genomic Views for MT-CO3 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
| Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for MT-CO3 Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-CO3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-CO3 |
Genomic Location: Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP009209: view genomic region
(about GC identifiers)
Start:
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9,207 bp from pter |
End:
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9,990 bp from pter |
Size:
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784 bases |
Orientation:
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plus strand |
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Proteins for MT-CO3 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: COX3_HUMAN, P00414 (See
protein sequence)Recommended Name: Cytochrome c oxidase subunit 3 Size: 261 amino acids; 29951 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q14Y83Explore the universe of human proteins at neXtProt for MT-CO3: NX_P00414
4/8 DME Specific Peptides for MT-CO3 (P00414) (see all 8)
MT-CO3 Protein expression data from MOPED and PaxDb: About this image 

ENSEMBL proteins: ENSP00000354982 Reactome Protein details: P00414 Human Recombinant Protein Products for MT-CO3:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MT-CO3 for ontologies About GeneDecksing
MT-CO3 Antibody Products: Assay Products for MT-CO3: |
Protein
Domains / Families for MT-CO3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-CO3 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P00414ProtoNet protein and cluster: P00414 1 Blocks protein family: IPB000298 Cytochrome c oxidase
UniProtKB/Swiss-Prot: COX3_HUMAN, P00414Similarity: Belongs to the cytochrome c oxidase subunit 3 family |
Function for MT-CO3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: COX3_HUMAN, P00414Function: Subunits I, II and III form the functional core of the enzyme complex Enzyme Number (IUBMB): EC 1.9.3.12
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004129 | cytochrome-c oxidase activity |
NAS | -- |
MT-CO3 for ontologies About GeneDecksing
Animal Models:
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Pathways & Interactions for MT-CO3 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
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | | | 3 | Cardiac muscle contraction | |
Pathway sources See GeneCards unified pathways Show all pathways
1 BioSystems Pathway for MT-CO3 
4
Reactome Pathways for MT-CO3
5/6
Kegg Pathways (Kegg details for MT-CO3) (see all 6):
MT-CO3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-CO3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/39 Interacting proteins for MT-CO3 (P004142, 3 ENSP000003549824) via UniProtKB, MINT, STRING, and/or I2D (see all 39)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen |
NAS | -- | | GO:0019646 | aerobic electron transport chain |
IEA | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MT-CO3 for ontologies About GeneDecksing
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Drugs & Compounds for MT-CO3 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
|
MT-CO3 for compounds About GeneDecksing
Browse Tocris compounds for MT-CO3
2 DrugBank Compounds for MT-CO3 About this table
4 Novoseek chemical compound relationships for MT-CO3 gene About this table
Search CenterWatch for drugs/clinical trials and news about MT-CO3 / COX3 
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Transcripts for MT-CO3 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,
Sirion Biotech,
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
| 1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000362079
GeneLoc Exon Structure
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Expression for MT-CO3 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
| MT-CO3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
 About this image See MT-CO3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MT-CO3 SABiosciences Custom PCR Arrays for MT-CO3
Primer Products: |  | Browse OriGene genome-wide validated SYBR primer pairs Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-CO3 | |  | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-CO3 | |  | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-CO3 |
Orthologs for MT-CO3 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
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MT-CO3 gene from 10/25 species (see all 25) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
mt-Co35 COX31 |
mitochondrially encoded cytochrome c oxidase III5 cytochrome c oxidase subunit III1 |
76.25(n)1 85.82(a)1 |
  |
MT5 177101 COX3_345386041 NP_904334.11 86075 |
chicken (Gallus gallus) |
Aves |
COX31 |
cytochrome c oxidase subunit III |
71.65(n) 73.18(a) |
  |
807637 COX3_166240019 NP_006921.2 |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.81552 |
Transcribed sequence with moderate similarity to protein more |
77.03(n) |
  |
CF152495.1 |
zebrafish (Danio rerio) |
Actinopterygii |
Dr.249112 |
Danio rerio cDNA clone MGC73301 IMAGE4787562, complete more |
74.23(n) |
  |
BC060932.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
COX31 |
cytochrome c oxidase subunit III |
64.61(n) 63.71(a) |
  |
192471 COX3_5835239 NP_008282.1 |
worm (Caenorhabditis elegans) |
Secernentea |
MTCE.236 |
Cytochrome c oxidase subunit 3 |
43(a) |
1 ↔ 1 |
MtDNA(5678-6449) |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
COX3(Q0275)4 COX31 |
Subunit III of cytochrome c oxidase, which is the terminal more4 Cox3p1 |
49.61(n)1 44.19(a)1 |
  |
17(79213-80022)4 8546271, 4 NP_009328.11, 4 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
cox31 |
cytochrome c oxidase subunit 3 |
59.4(n) 57.59(a) |
  |
814601 cox3_26556997 NP_085532.2 |
rice (Oryza sativa) |
Liliopsida |
Os.247412 |
Transcribed sequence with weak similarity to protein more |
73.63(n) |
  |
CA762510.1 |
E. coli (Escherichia coli) |
Gamma proteobacteria |
cyoC6 |
cytochrome o ubiquinol oxidase subunit III |
23(a) |
1 ↔ 1 |
Chromosome(447270-447884) b0430 |
ENSEMBL Gene Tree for MT-CO3 (if available) TreeFam Gene Tree for MT-CO3 (if available)  |
Paralogs for MT-CO3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for MT-CO3 gene
3 SIMAP similar genes for MT-CO3 using alignment to 1 protein entry: COX3_HUMAN:CO3 COIII COX3
MT-CO3 for paralogs About GeneDecksing
5/63 Pseudogenes.org Pseudogenes for MT-CO3 (see all 63) PGOHUM00000238688 PGOHUM00000242446 PGOHUM00000242815 PGOHUM00000248440 PGOHUM00000247777
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Genomic Variants for MT-CO3 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
| Human Gene Mutation Database (HGMD): MT-CO3
 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases for MT-CO3 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
|
MT-CO3 for disorders About GeneDecksing
OMIM gene information: 516050
OMIM disorders: --
UniProtKB/Swiss-Prot: COX3_HUMAN, P00414
Defects in MT-CO3 are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternallyinherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiacconduction defects and neurological defects have also been described in some patients. LHON results from primarymitochondrial DNA mutations affecting the respiratory chain complexes Defects in MT-CO3 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known ascytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinicalmanifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs.Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness,excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patientsmanifest Leigh syndrome Defects in MT-CO3 are associated with recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]. Recurrentmyoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle)associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine 20/38 diseases for MT-CO3 (see all 38): About MalaCardsmitochondrial dna-associated leigh syndrome and narp leber hereditary optic neuropathy open-angle glaucoma leigh-like syndrome mitochondrial myopathy with lactic acidosis lactic acidosis renal tubular acidosis optic neuritis melas syndrome neuritis papillary thyroid carcinoma peripheral neuropathy glaucoma neuropathy hepatitis b myocardial infarction myopathy encephalomyopathy chagas disease thyroid carcinoma
2 diseases from the University of Copenhagen DISEASES database for MT-CO3:Metabolic acidosis Leber hereditary optic neuropathy 6 Novoseek disease relationships for MT-CO3 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lebers hereditary optic neuropathy |
58.5 |
1 |
8240356 (1) |
| mitochondrial myopathies |
54.1 |
2 |
12414820 (1), 15173241 (1) |
| acidosis lactic |
42.3 |
1 |
12414820 (1) |
| hepatitis b |
5.23 |
4 |
16677157 (3), 15334674 (1) |
| tumors |
0 |
1 |
12964965 (1) |
| carcinoma |
0 |
1 |
2154329 (1) |
GeneTests: MT-CO3 Mitochondrial DNA-Associated Leigh Syndrome and NARPLeber Hereditary Optic Neuropathy Export disorders for MT-CO3 gene to outside databases
|
Publications for MT-CO3 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 MT-CO3 gene, integrated from 9 sources (see all 95): (articles sorted by number of sources associating them with MT-CO3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
- A MELAS syndrome family harboring two mutations in mitochondrial genome. (PubMed id 18587274)1, 9 Choi B.O....Chung K.W. (2008)
- Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. (PubMed id 16288875)1, 9 Horvath R....Lochmuller H. (2005)
- Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. (PubMed id 8240356)2, 9 Johns D.R. and Neufeld M.J. (1993)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- HIV-1 Tat protein directly induces mitochondrial membr ane permeabilization and inactivates cytochrome c oxidase. (PubMed id 22419111)1 Lecoeur H....Jacotot E. (2012)
- Molecular-clinical correlation in a family with a nov el heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochro me c oxidase III gene. (PubMed id 20525945)1 Mkaouar-Rebai E....Fakhfakh F. (2011)
- Novel single base pair COX III subunit deletion of mi tochondrial DNA associated with rhabdomyolysis. (PubMed id 21163656)1 Marotta R....Collins S.J. (2011)
- Major arc mitochondrial DNA deletions in cytochrome c oxidase-deficient human cochlear spiral ganglion cells. (PubMed id 20085441)1 Markaryan A....Hinojosa R. (2010)
- MtSNPscore: a combined evidence approach for assessin g cumulative impact of mitochondrial variations in disease. (PubMed id 19758471)1 Bhardwaj A....Tiwari S. (2009)
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External Searches for MT-CO3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MT-CO3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-CO3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-CO3 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 MT-CO3 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-CO3 |
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| | |
About This Section
| Patent Information for MT-CO3 gene: Search GeneIP for patents involving MT-CO3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for MT-CO3 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory) About This Section
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-CO3 | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-CO3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-CO3 | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-CO3 | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-CO3 | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-CO3 |
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| | | Search Tocris compounds for MT-CO3 |
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 | | MT-CO3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | Search ThermoFisher Antibodies for MT-CO3 |
| | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-CO3 |
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