MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP006161

UniProt Annotations

Entry Information
Gene Namemethylmalonyl CoA epimerase
Protein EntryMCEE_HUMAN
UniProt IDQ96PE7
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA.
DiseaseMethylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: 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. {ECO:0000269|PubMed:16752391}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the glyoxalase I family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000305}.
  logo