NP_000246.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
83,134 Da
NCBI Official Full Name
methylmalonyl-CoA mutase, mitochondrial
NCBI Official Synonym Full Names
methylmalonyl-CoA mutase
NCBI Official Synonym Symbols
NCBI Protein Information
methylmalonyl-CoA mutase, mitochondrial
UniProt Protein Name
Methylmalonyl-CoA mutase, mitochondrial
UniProt Synonym Protein Names
Methylmalonyl-CoA isomerase
UniProt Synonym Gene Names
UniProt Entry Name
MUTA_HUMAN
NCBI Summary for MCM
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 Comments for MCM
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
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Products associated with MCM elisa kit
Pathways associated with MCM elisa kit
Diseases associated with MCM elisa kit
Organs/Tissues associated with MCM elisa kit
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