MCEE Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

MCEE: Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEED); also known as methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3. MCEE deficiency is an 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. Belongs to the glyoxalase I family.

Protein type: Mitochondrial; Carbohydrate Metabolism - propanoate; Isomerase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 5.1.99.1

Chromosomal Location of Human Ortholog: 2p13.3

Cellular Component: mitochondrial matrix

Molecular Function: metal ion binding; methylmalonyl-CoA epimerase activity

Biological Process: L-methylmalonyl-CoA metabolic process; fatty acid beta-oxidation; short-chain fatty acid catabolic process; cellular lipid metabolic process

Disease: Methylmalonyl-coa Epimerase Deficiency