Methylmalonyl Coenzyme A Mutase (MUT)
MCM; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase, mitochondrial
Methylmalonyl Coenzyme A Mutase is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria.Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) . MMAM is an often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPD691Hu01 | Recombinant Methylmalonyl Coenzyme A Mutase (MUT) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | n/a | Monoclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Methylmalonyl Coenzyme A Mutase (MUT) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Methylmalonyl Coenzyme A Mutase (MUT) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Methylmalonyl Coenzyme A Mutase (MUT) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Methylmalonyl Coenzyme A Mutase (MUT) | ELISA Kit Customized Service Offer |