Aliases for MCCC1 Gene
- Methylcrotonoyl-CoA Carboxylase 1 2 3 5
- Methylcrotonoyl-CoA Carboxylase Subunit Alpha, Mitochondrial 3 4
- 3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit 3 4
- 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha 3 4
- Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha) 2 3
- Methylcrotonoyl-CoA Carboxylase Alpha 2 3
External Ids for MCCC1 Gene
Previous GeneCards Identifiers for MCCC1 Gene
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]
GeneCards Summary for MCCC1 Gene
MCCC1 (Methylcrotonoyl-CoA Carboxylase 1) is a Protein Coding gene. Diseases associated with MCCC1 include 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and D-alanine-D-alanine ligase activity. An important paralog of this gene is PCCA.
UniProtKB/Swiss-Prot Summary for MCCC1 Gene
Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.