MCEE is a 176 amino acid mitochondrial protein that belongs to the glyoxalase I family. MCEE catalyzes the interconversion of D- and L-methylmalonyl-CoA during the breakdown of branched chain amino acids. The gene encoding MCEE maps to human chromosome 2p13.3. Defects in the MCEE gene are the cause of an autosomal recessive disease known as methylmalonyl-CoA epimerase deficiency (MCEE deficiency), methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3, which is characterized by mild to moderate methylmalonic aciduria.
Subcellular Location:
Mitochondrion.
DISEASE:
Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEE deficiency) [MIM:251120]; 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.
Similarity:
Belongs to the glyoxalase I family.
SWISS:
Q96PE7
Gene ID:
84693
Database links:
Entrez Gene: 84693 Human
Entrez Gene: 73724 Mouse
Omim: 608419 Human
SwissProt: Q96PE7 Human
SwissProt: Q9D1I5 Mouse
Unigene: 94949 Human
Unigene: 10093 Mouse
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