Aliases for MCCC2 Gene
- Methylcrotonoyl-CoA Carboxylase 2 2 3 5
- 3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit 3 4
- 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta 3 4
- Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta) 2 3
- 3-Methylcrotonyl-CoA Carboxylase 2 3 4
- MCCase Subunit Beta 3 4
- EC 22.214.171.124 4 61
- MCCB 3 4
External Ids for MCCC2 Gene
Previous GeneCards Identifiers for MCCC2 Gene
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]
GeneCards Summary for MCCC2 Gene
MCCC2 (Methylcrotonoyl-CoA Carboxylase 2) is a Protein Coding gene. Diseases associated with MCCC2 include 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Defective HLCS causes multiple carboxylase deficiency. GO annotations related to this gene include ligase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.
UniProtKB/Swiss-Prot for MCCC2 Gene
Carboxyltransferase 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.