MTRF1L Gene
protein-coding GIFtS: 51
GCID: GC06M153308
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mitochondrial translational release factor 1-like
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Aliases for MTRF1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Mitochondrial Translational Release Factor 1-Like1 2 3 | | Mitochondrial Release Factor 1 Like2 | | MtRF1a1 | | Peptide Chain Release Factor 1-Like, Mitochondrial2 | | HMRF1L2 | | MTRF1A3 | | MRF1L2 | | |
Export aliases for MTRF1L gene to outside databasesPrevious GC identifers: GC06M153264 GC06M153340 GC06M153401 GC06M153351 GC06M150871 |
Summaries for MTRF1L 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 MTRF1L: Mitochondrial DNA encodes 13 proteins that play essential roles in the respiratory chain, while all proteins involvedin mitochondrial translation are encoded by nuclear genes that are imported from the cytoplasm. MTRF1L is anuclear-encoded protein that functions as a releasing factor that recognizes termination codons and releasesmitochondrial ribosomes from the synthesized protein (summary by Nozaki et al., 2008 (PubMed 18429816)).(supplied byOMIM, Nov 2010) UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Function: Mitochondrial peptide chain release factor that directs the termination of translation in response to thepeptide chain termination codons UAA and UAG Gene Wiki entry for MTRF1L
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Genomic Views for MTRF1L 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_000006.11 NC_018917.1 NT_025741.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MTRF1L gene promoter: GR Sox5 FOXO3 Nkx2-5 HNF-3beta HNF-1A FOXO3b FOXC1 FOXO3a GR-alpha Other transcription factors
Search SABiosciences Chromatin IP Primers for MTRF1L
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTRF1L |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q25-q26 Ensembl cytogenetic band: 6q25.2 HGNC cytogenetic band: 6q25-q26MTRF1L Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M153308: view genomic region
(about GC identifiers)
Start:
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153,308,400 bp from pter |
End:
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153,323,925 bp from pter |
Size:
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15,526 bases |
Orientation:
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minus strand |
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Proteins for MTRF1L 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: RF1ML_HUMAN, Q9UGC7 (See
protein sequence)Recommended Name: Peptide chain release factor 1-like, mitochondrial precursor Size: 380 amino acids; 43600 Da
Subcellular location: Mitochondrion
Secondary accessions: B3KTA0 Q3KR06 Q5TF44 Q5TF50 Q96CC5 Q96EX4 Q96K40Alternative splicing: 4 isoforms: Q9UGC7-1 Q9UGC7-2 Q9UGC7-3 Q9UGC7-4 Explore the universe of human proteins at neXtProt for MTRF1L: NX_Q9UGC7
Post-translational modifications:
Methylation of glutamine in the GGQ triplet is conserved from bacteria to mammals (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UGC7 MTRF1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001107656.1 NP_061914.3 ENSEMBL proteins: ENSP00000414383 ENSP00000356202 ENSP00000356200 ENSP00000356199 ENSP00000415113 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:0005739 | mitochondrion |
IDA | -- |
MTRF1L for ontologies About GeneDecksing
MTRF1L Antibody Products: Assay Products for MTRF1L: |
Protein
Domains / Families for MTRF1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MTRF1L for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UGC7ProtoNet protein and cluster: Q9UGC7 1 Blocks protein family: IPB000352 Class I peptide chain release factor domain
UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Similarity: Belongs to the prokaryotic/mitochondrial release factor family |
Function for MTRF1L 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: RF1ML_HUMAN, Q9UGC7Function: Mitochondrial peptide chain release factor that directs the termination of translation in response to thepeptide chain termination codons UAA and UAG
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 MTRF1L (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1L (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): MTRF1L (NM_019041) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MTRF1L | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1L  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1L |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003747 | translation release factor activity |
-- | -- | | GO:0016149 | translation release factor activity, codon specific |
IEA | -- |
MTRF1L for ontologies About GeneDecksing
Animal Models: 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mtrf1l):
MTRF1L for phenotypes About GeneDecksing
|
Pathways & Interactions for MTRF1L 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 MTRF1L
STRING Interaction
Network Preview (showing 5 interactants - click image to see 22)
 5/34 Interacting proteins for MTRF1L (Q9UGC73 ENSP000003562024) via UniProtKB, MINT, STRING, and/or I2D (see all 34)About this table
|
Drugs & Compounds for MTRF1L 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 MTRF1L Search CenterWatch for drugs/clinical trials and news about MTRF1L / RF1ML 
|
Transcripts for MTRF1L 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 MTRF1L gene (2 alternative transcripts): NM_001114184.1 NM_019041.5 Unigene Cluster for MTRF1L: Mitochondrial translational release factor 1-like Hs.225836 [show with all ESTs]Unigene Representative Sequence: NM_01904111 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000461949 ENST00000414771 ENST00000367233(uc003qpi.4 uc011efa.2) ENST00000464135(uc003qpj.4) ENST00000367231(uc003qpl.4) ENST00000367230(uc003qpk.4) ENST00000485512 ENST00000485283 ENST00000463251 ENST00000448966 ENST00000482526
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1L (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTRF1L (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): MTRF1L (NM_019041) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MTRF1L | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1L  |
Additional cDNA sequence: AK001037.1 AK027684.1 AK095240.1 AK225321.1 AK225970.1 AK290662.1 AK297671.1 AL049992.1 BC011873.2 BC014428.1 BC105973.1 22 DOTS entries: DT.97841761 DT.92428057 DT.100790932 DT.95174222 DT.95174220 DT.121396156 DT.100790930 DT.205990 DT.75153380 DT.95174221 DT.95118787 DT.121269434 DT.91952549 DT.99968141 DT.100790928 DT.75109609 DT.75110081 DT.121396047 DT.121396114 DT.91649607 DT.95133838 DT.95174223 24/206 AceView cDNA sequences (see all 206): BM665804 BQ947765 CK903839 AI873974 BM855571 BU165209 BQ774927 AW273453 AI479199 BM994815 AI474350 F35597 AA256754 AI372887 AI915742 BX369718 AI225109 CR616466 AW295335 AA577353 AI803987 BC014428 BX423351 AI434611 GeneLoc Exon Structure
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Expression for MTRF1L 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
| MTRF1L expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTGAAGTCAG
About this image See MTRF1L Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MTRF1L
SOURCE GeneReport for Unigene cluster: Hs.225836 UniProtKB/Swiss-Prot: RF1ML_HUMAN, Q9UGC7Tissue specificity: Expressed in skeletal muscle (at protein level) SABiosciences Custom PCR Arrays for MTRF1L
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTRF1L Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTRF1L | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTRF1L | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTRF1L | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1L |
Orthologs for MTRF1L 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 MTRF1L gene from 11/38 species (see all 38) About this table
ENSEMBL Gene Tree for MTRF1L (if available) TreeFam Gene Tree for MTRF1L (if available)  |
Paralogs for MTRF1L gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for MTRF1L gene
- MTRF12
1 SIMAP similar gene for MTRF1L using alignment to 4 protein entries: RF1ML_HUMAN (see all proteins):MTRF1
MTRF1L for paralogs About GeneDecksing
3 Pseudogenes.org Pseudogenes for MTRF1L PGOHUM00000242895 PGOHUM00000249799 PGOHUM00000250041
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Genomic Variants for MTRF1L 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 6 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for MTRF1L (153308400 - 153323925 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for MTRF1L 3 CNVs: 94116 81659 94117  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTRF1L |
|
Disorders
/ Diseases for MTRF1L 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
|
MTRF1L for disorders About GeneDecksing
OMIM gene information: 613542
OMIM disorders: --
8 diseases for MTRF1L: About MalaCardscleft lip/palate cleft lip optic atrophy leigh disease pneumonia tuberculosis malaria mycobacterium tuberculosis 2 diseases from the University of Copenhagen DISEASES database for MTRF1L:Leigh disease Ophthalmoplegia Human Genome Epidemiology (HuGE) Navigator: MTRF1L (2 documents) Export disorders for MTRF1L gene to outside databases
|
Publications for MTRF1L 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 MTRF1L gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with MTRF1L) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC. (PubMed id 18541145)1, 2 Ishizawa T....Takeuchi N. (2008)
- mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG. (PubMed id 17803939)1, 2 Soleimanpour-Lichaei H.R....Chrzanowska-Lightowlers Z. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Mutations in C12orf65 in patients with encephalomyopa thy and a mitochondrial translation defect. (PubMed id 20598281)1 Antonicka H....Shoubridge E.A. (2010)
- HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG. (PubMed id 18429816)1 Nozaki Y....Takeuchi N. (2008)
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (2008)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- 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)
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External Searches for MTRF1L gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MTRF1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MTRF1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MTRF1L 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 MTRF1L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MTRF1L gene: Search GeneIP for patents involving MTRF1L
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for MTRF1L 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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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MTRF1L | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTRF1L | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTRF1L | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTRF1L | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTRF1L | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTRF1L |
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 | | MTRF1L Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTRF1L |
|  |  |  | | | ThermoFisher Antibodies for MTRF1L |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTRF1L |
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