MCCC2 Gene Summary [Human]
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
Details
| Type | Processed Transcript |
| Official Symbol | MCCC2 |
| Official Name | methylcrotonoyl-CoA carboxylase 2 [Source:HGNC Symbol;Acc:HGNC:6937] |
| Ensembl ID | ENSG00000131844 |
| Bio databases IDs | |
| Aliases | methylcrotonoyl-CoA carboxylase 2, methylcrotonyl-CoA carboxylase subunit 2, methylcrotonoyl-CoA carboxylase beta, 3-methylcrotonyl-CoA carboxylase non-biotin containing subunit |
| Synonyms | 4930552N12RIK, MCCB, MCCCbeta, methylcrotonoyl-Coenzyme A carboxylase 2 (beta), methylcrotonoyl-Coenzyme A carboxylase 2 (β), methylcrotonyl-CoA carboxylase subunit 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MCCC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme
- protein binding
- methylcrotonoyl-CoA carboxylase
- Carboxyl transferase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- breast cancer
- 3-methylcrotonylglycinuria
- liver cancer
- epithelial cancer
- hepatocellular carcinoma
- hereditary disorder
- Parkinson disease
- pervasive developmental disorder
- cannabis dependence
regulates
- leucine
- coenzyme A
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCCC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
- leucine catabolic process
- coenzyme A metabolic process
Cellular Component
Where in the cell the gene product is active
- 3-methylcrotonyl-CoA carboxylase complex, mitochondrial
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- methylcrotonoyl-CoA carboxylase activity