Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha) (MCCC1) Antibody – Rabbit Polyclonal

This gene encodes the large 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]

MCCC1: Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D). 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.

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

Chromosomal Location of Human Ortholog: 3q27

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane; cytosol

Molecular Function: protein binding; methylcrotonoyl-CoA carboxylase activity; metal ion binding; biotin carboxylase activity; ATP binding; biotin binding

Biological Process: leucine catabolic process; vitamin metabolic process; branched chain family amino acid catabolic process; water-soluble vitamin metabolic process; biotin metabolic process

Disease: 3-methylcrotonyl-coa Carboxylase 1 Deficiency