MCCC2 Antibody (Center) Blocking Peptide

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

MCCC2: Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D). 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. Belongs to the AccD/PCCB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Ligase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 6.4.1.4

Chromosomal Location of Human Ortholog: 5q12-q13

Cellular Component: cytosol; mitochondrial matrix; mitochondrion

Molecular Function: methylcrotonoyl-CoA carboxylase activity; protein binding

Biological Process: biotin metabolic process; branched chain family amino acid catabolic process; leucine catabolic process

Disease: 3-methylcrotonyl-coa Carboxylase 2 Deficiency