功能： catalytic activity:ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.,disease:Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]. MCC2 deficiency is an autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.,pathway:Amino-acid degradation; L-leucine degradation; HMG-CoA from 3-isovaleryl-CoA: step 2/3.,similarity:Belongs to the accD/PCCB family.,similarity:Contains 1 carboxyltransferase domain.,subunit:Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.,
功能： catalytic activity:ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.,disease:Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]. MCC2 deficiency is an autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.,pathway:Amino-acid degradation; L-leucine degradation; HMG-CoA from 3-isovaleryl-CoA: step 2/3.,similarity:Belongs to the accD/PCCB family.,similarity:Contains 1 carboxyltransferase domain.,subunit:Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.,
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