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MMAB

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found.

Full Name

METHYLMALONIC ACIDURIA (COBALAMIN DEFICIENCY) CBLB TYPE

Function

Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191).

Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA (Probable).

Biological Process

Cobalamin metabolic process Source: UniProtKB

Cellular Location

Mitochondrion

Involvement in disease

Methylmalonic aciduria type cblB (MMAB):
A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

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Anti-MMAB antibodies

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Mouse Anti-MMAB Recombinant Antibody (CBFYM-2321) (CBMAB-M2506-FY)

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Target: MMAB

Host: Mouse

Antibody Isotype: IgG1

Specificity: Human

Clone: CBFYM-2321

Application*: F

Mouse Anti-MMAB Recombinant Antibody (CBFYM-2320) (CBMAB-M2505-FY)

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Target: MMAB

Host: Mouse

Antibody Isotype: IgG2a

Specificity: Human

Clone: CBFYM-2320

Application*: F, IF, 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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