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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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Mouse Anti-NDUFAF7 Recombinant Antibody (CBWJC-4246) (CBMAB-C5601WJ)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2b

Specificity: Human

Clone: CBWJC-4246

Application*: WB, IH

Mouse Anti-NDUFAF7 Recombinant Antibody (CBXC-3006) (CBMAB-C5469-CQ)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2b

Specificity: Human

Clone: CBXC-3006

Application*: WB, F

Mouse Anti-NDUFAF7 Recombinant Antibody (CBYY-C0804) (CBMAB-C2240-YY)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2a

Specificity: Human, Mouse, Rat, Dog, Monkey

Clone: CBYY-C0804

Application*: WB, IH, IF

Mouse Anti-NDUFAF7 Recombinant Antibody (CBYY-C0803) (CBMAB-C2239-YY)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2b

Specificity: Human

Clone: CBYY-C0803

Application*: F, WB

Mouse Anti-NDUFAF7 Recombinant Antibody (CBFYM-3027) (CBMAB-M3222-FY)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2b

Specificity: Human

Clone: CBFYM-3027

Application*: WB, IH, P

Mouse Anti-NDUFAF7 Recombinant Antibody (4A5) (CBMAB-N1629-WJ)

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Target: NDUFAF7

Host: Mouse

Antibody Isotype: IgG2b

Specificity: Human

Clone: 4A5

Application*: P, WB

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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
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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