NDUFAF7
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Full Name
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 7
Function
Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397).
Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).
Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).
Biological Process
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Peptidyl-arginine methylation, to symmetrical-dimethyl arginine Source: UniProtKB
Peptidyl-arginine methylation, to symmetrical-dimethyl arginine Source: UniProtKB
Cellular Location
Mitochondrion
Involvement in disease
Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye.
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Anti-NDUFAF7 antibodies
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Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBWJC-4246
Application*: WB, IH
Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBXC-3006
Application*: WB, F
Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human, Mouse, Rat, Dog, Monkey
Clone: CBYY-C0804
Application*: WB, IH, IF
Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYY-C0803
Application*: F, WB
Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYM-3027
Application*: WB, IH, P
Target: NDUFAF7
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 4A5
Application*: P, 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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