Sign in or Register   Sign in or Register
  |  

NUBPL

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Full Name
Nucleotide Binding Protein Like
Function
Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits.
Biological Process
Iron-sulfur cluster assemblyManual Assertion Based On ExperimentIBA:GO_Central
Mitochondrial respiratory chain complex I assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Mitochondrion morphogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Mitochondrion
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21):
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.

Anti-NUBPL antibodies

Loading...
Target: NUBPL
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human, Monkey
Clone: 5D5
Application*: WB, F, IH, IF, P
Target: NUBPL
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 5C12
Application*: F, WB
Target: NUBPL
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 3D11
Application*: WB, IH
Target: NUBPL
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2C8
Application*: F, WB
Target: NUBPL
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1C5
Application*: F, P, WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
Go to
Compare