MT-ND4 Gene
protein-coding GIFtS: 46
GCID: GCMTP010762
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mitochondrially encoded NADH dehydrogenase 4(Previous name: NADH dehydrogenase 4 )
(Previous symbol: MTND4)
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Aliases
for MT-ND4 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 NADH Dehydrogenase 41 | | NAD41 | | MTND41 2 3 | | NADH Dehydrogenase 41 | | ND41 2 3 | | NADH Dehydrogenase, Subunit 4 (Complex I)2 | | NADH Dehydrogenase Subunit 42 3 | | NADH43 | | EC 1.6.5.33 8 | | |
Export aliases for MT-ND4 gene to outside databasesPrevious GC identifer: GC00U921590 |
Summaries
for MT-ND4 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: NU4M_HUMAN, P03905Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)
Gene Wiki entry for MT-ND4
|
Genomic Views
for MT-ND4 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-ND4
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND4 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP010762: view genomic region
(about GC identifiers)
Start:
|
10,760 bp from pter |
End:
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12,137 bp from pter |
Size:
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1,378 bases |
Orientation:
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plus strand |
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Proteins
for MT-ND4 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: NU4M_HUMAN, P03905 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 4 Size: 459 amino acids; 51581 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q6RL39 Q6RQN9 Q8HNR8Explore the universe of human proteins at neXtProt for MT-ND4: NX_P03905
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P03905
4/31 DME Specific Peptides for MT-ND4 (P03905) (see all 31)
MT-ND4 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000354961 Reactome Protein details: P03905
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MT-ND4 for ontologies About GeneDecksing
MT-ND4 Antibody Products:
Assay Products for MT-ND4: |
Protein
Domains /
Families
for MT-ND4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ND4 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P03905ProtoNet protein and cluster: P03905 1 Blocks protein family: IPB003918 NADH-ubiquinone oxidoreductase subunit 4 signature
UniProtKB/Swiss-Prot: NU4M_HUMAN, P03905Similarity: Belongs to the complex I subunit 4 family |
Function
for MT-ND4 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: NU4M_HUMAN, P03905Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinolEnzyme Number (IUBMB): EC 1.6.5.31 2
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:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 3921850 |
MT-ND4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MT-ND4:
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Pathways & Interactions
for MT-ND4 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 | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for MT-ND4
4 
Reactome Pathways for MT-ND4
3 
Kegg Pathways (Kegg details for MT-ND4):
MT-ND4 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/64 Interacting proteins for MT-ND4 (P039053 ENSP000003549614) via UniProtKB, MINT, STRING, and/or I2D (see all 64)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
MT-ND4 for ontologies About GeneDecksing
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Drugs & Compounds
for MT-ND4 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-ND4 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND4
9 HMDB Compounds for MT-ND4 About this table
1 DrugBank Compound for MT-ND4 About this table
10/12 Novoseek chemical compound relationships for MT-ND4 gene (see all 12) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nadh |
77.9 |
26 |
9950599 (1), 11163447 (1), 10491287 (1), 10916295 (1) (see all 18) |
| ubiquinone |
57.3 |
1 |
10447460 (1) |
| isoleucine |
48.7 |
4 |
12271374 (2), 8644732 (1), 17300996 (1) |
| galactose |
36.8 |
1 |
17518546 (1) |
| nad+ |
35.3 |
3 |
9950599 (1), 20454697 (1), 15560738 (1) |
| atp |
28.6 |
6 |
17518546 (1), 15639345 (1), 7533057 (1) |
| valine |
21.3 |
2 |
8644732 (1), 17300996 (1) |
| succinate |
21.3 |
1 |
8706709 (1) |
| threonine |
19.5 |
2 |
12271374 (2) |
| pyruvate |
10.3 |
1 |
8706709 (1) |
Search CenterWatch for drugs/clinical trials and news about MT-ND4 / NU4M
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Transcripts
for MT-ND4 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
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361381(uc004cov.4)
GeneLoc Exon Structure
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Expression
for MT-ND4 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-ND4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MT-ND4
SABiosciences Custom PCR Arrays for MT-ND4
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND4
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND4 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND4 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND4 |
Orthologs
for MT-ND4 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-ND4 gene from 8/22 species (see all 22) About this table
ENSEMBL Gene Tree for MT-ND4 (if available)
TreeFam Gene Tree for MT-ND4 (if available) |
Paralogs
for MT-ND4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND4 gene
- MT-ND22 MT-ND52
2 SIMAP similar genes for MT-ND4 using alignment to 1 protein entry: NU4M_HUMAN:NADH4 ND4
MT-ND4 for paralogs About GeneDecksing
5/48 Pseudogenes.org Pseudogenes for MT-ND4 (see all 48)
PGOHUM00000238407 PGOHUM00000238592 PGOHUM00000238594 PGOHUM00000242818 PGOHUM00000248428
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Genomic Variants
for MT-ND4 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-ND4
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for MT-ND4 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-ND4 for disorders About GeneDecksing
OMIM gene information: 516003
OMIM disorders: --
UniProtKB/Swiss-Prot: NU4M_HUMAN, P03905
Defects in MT-ND4 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-ND4 are a cause of Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]; alsocalled familial dystonia with visual failure and striatal lucencies. LDYT is part of a spectrum of Leber hereditaryoptic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia Defects in MT-ND4 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodessyndrome (MELAS) [MIM:540000]. MELAS is a genetically heterogenious disorder, characterized by episodic vomiting,seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or corticalblindness
20/43  diseases for MT-ND4 (see all 43): About MalaCardsleber hereditary optic neuropathy mitochondrial dna-associated leigh syndrome and narp leber hereditary optic neuropathy with dystonia open-angle glaucoma
mitochondrial encephalomyopathy lactic acidosis encephalomyopathy optic neuritis
carrion's disease cortical blindness familial dystonia melas syndrome
neuropathy optic atrophy neuritis transitional cell carcinoma
glaucoma hereditary neuropathies leigh disease maculopathy
4 diseases from the University of Copenhagen DISEASES database for MT-ND4:Leber hereditary optic neuropathy Optic atrophy Leigh disease Mitochondrial myopathy 7 Novoseek disease relationships for MT-ND4 gene About this table
GeneTests: MT-ND4
Mitochondrial DNA-Associated Leigh Syndrome and NARPMitochondrial DisordersLeber Hereditary Optic Neuropathy
Genetic Association Database (GAD): MT-ND4
Export disorders for MT-ND4 gene to outside databases
|
Publications
for MT-ND4 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-ND4 gene, integrated from 9 sources (see all 116):
(articles sorted by number of sources associating them with MT-ND4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- [Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients] (PubMed id 15952130)1, 4 Wang Y....Zhang Q.J. (2005)
- Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4 Huerta C....Alvarez V. (2005)
- [Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus] (PubMed id 15696471)1, 4 Yu D.M....Liu D.M. (2005)
- Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran. (PubMed id 14671420)1, 4 Houshmand M....Lotfi J. (2004)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- Leukocyte mitochondrial DNA A to G polymorphism at 11084 is not a risk factor for Japanese migraineurs. (PubMed id 11843871)1, 4 Takeshima T....Nakashima K. (2001)
- Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. (PubMed id 3921850)1, 2 Chomyn A.... Attardi G. (1985)
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
- The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis. (PubMed id 17382898)1, 9 Valdivieso A.G....Santa-Coloma T.A. (2007)
- Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. (PubMed id 18771762)1, 9 Ellouze S....Corral-Debrinski M. (2008)
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External Searches for MT-ND4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MT-ND4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ND4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ND4 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-ND4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND4 |
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| | |
About This Section
| Patent Information for MT-ND4 gene:
Search GeneIP for patents involving MT-ND4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MT-ND4 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 MT-ND4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MT-ND4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND4 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MT-ND4 | | Browse OriGene Myc/DDK tagged cDNA clones in CMV expression vector | | | 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 MT-ND4 | | OriGene Custom Protein Services for MT-ND4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND4 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND4 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND4 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND4 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND4 |
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 |  |  |  | |
| | | | Search Tocris compounds for MT-ND4 |
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 | | | MT-ND4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-ND4 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND4 |
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