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).
Biological Process
Mitochondrial respiratory chain complex I assembly 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
More Infomation
Submit A Review Fig.3 Signaling pathways in cancers. (Creative Biolabs Authorized) Fig.4 Protocols troubleshootings & guides. (Creative Biolabs Authorized) Submit A Review Fig.3 Signaling pathways in cancers. (Creative Biolabs Authorized) Fig.4 Protocols troubleshootings & guides. (Creative Biolabs Authorized)
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(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
  • 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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