Hamster Methylmalonyl-CoA Mutase, Mitochondrial (MCM) ELISA Kit | MCM elisa kit
Hamster Methylmalonyl-CoA Mutase, Mitochondrial (MCM) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene 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. [provided by RefSeq, Jul 2008]
Uniprot Description
MUT: Involved in the degradation of several amino acids, odd- chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species. 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. Belongs to the methylmalonyl-CoA mutase family.
Protein type: Carbohydrate Metabolism - propanoate; Isomerase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; EC 5.4.99.2
Chromosomal Location of Human Ortholog: 6p12.3
Cellular Component: mitochondrial matrix; mitochondrion
Molecular Function: cobalamin binding; metal ion binding; methylmalonyl-CoA mutase activity
Biological Process: cellular lipid metabolic process; cobalamin metabolic process; fatty acid beta-oxidation; homocysteine metabolic process; post-embryonic development; short-chain fatty acid catabolic process; vitamin metabolic process; water-soluble vitamin metabolic process
Disease: Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency
Research Articles on MCM
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Product Notes
The Hamster MCM mut (Catalog #AAA9368836) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9368836 ELISA Kit recognizes Hamster MCM. It is sometimes possible for the material contained within the vial of "Methylmalonyl-CoA Mutase, Mitochondrial (MCM), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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