MCEE
The product of this gene catalyzes the interconversion of D-and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria.
Full Name
METHYLMALONYL-COA EPIMERASE
Function
Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
Biological Process
L-methylmalonyl-CoA metabolic process Source: UniProtKB
Short-chain fatty acid catabolic process Source: Reactome
Short-chain fatty acid catabolic process Source: Reactome
Cellular Location
Mitochondrion
Involvement in disease
Methylmalonyl-CoA epimerase deficiency (MCEED):
Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.
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Anti-MCEE antibodies
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Target: MCEE
Sensitivity: 0.0043 ng/mL
Detection Range: 0.01-2 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
Target: MCEE
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYM-1866
Application*: WB, IH
Target: MCEE
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 6A1
Application*: P, WB
Target: MCEE
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1B5
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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