TUFM
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Full Name
TUFM Gene(Protein Coding) Tu Translation Elongation Factor, Mitochondrial
Function
Promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Also plays a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIG-I/DDX58-MAVS pathway. In turn, inhibits RLR-mediated type I interferon while promoting autophagy.
Biological Process
Biological Process mitochondrial translational elongation Source:GO_Central1 Publication
Biological Process response to ethanol Source:Ensembl
Biological Process translational elongation Source:UniProtKB1 Publication
Biological Process response to ethanol Source:Ensembl
Biological Process translational elongation Source:UniProtKB1 Publication
Cellular Location
Mitochondrion
Involvement in disease
Mitochondrion:
A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.
A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.
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Anti-TUFM antibodies
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Target: TUFM
Specificity: Human
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3C1
Application*: WB, E
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: V2-619096
Application*: SE, E
Target: TUFM
Host: Mouse
Specificity: Human
Clone: CBYC-XB007
Application*: WB
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-5374
Application*: WB, IH, IC, IF
Target: TUFM
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJT-5373
Application*: WB, IH, IC, IF
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-5372
Application*: WB, IH, IC, IF
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYJT-5371
Application*: E
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYJT-5370
Application*: E, IP, WB
Target: TUFM
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBYJT-5369
Application*: IC, IF
Target: TUFM
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYE-1679
Application*: E, IP, WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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