基因名:
Mcee
产品别名:
1110007A04Rik; Mcee; methylmalonyl CoA epimerase; methylmalonyl CoA epimerase; methylmalonyl-CoA epimerase, mitochondrial; DL-methylmalonyl-CoA racemase; MCEE蛋白; 甲基丙二酰辅酶A异构酶(MCEE);
背景信息:
Methylmalonyl-CoA epimerase, mitochondrial(MCEE)is an enzyme which belongs to the glyoxalase I family. It converts (S)-methylmalonyl-CoA to the (R) form, catalyses the following chemical reaction: (R)-methylmalonyl-CoA (S)-methylmalonyl-CoA. It plays an important role in the catabolism of fatty acids with odd-length carbon chains. This protein deficiency is an autosomal recessive inborn error of AA metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria can appear in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.