PCCB Gene Summary [Human]
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | PCCB |
| Official Name | propionyl-CoA carboxylase subunit beta [Source:HGNC Symbol;Acc:HGNC:8654] |
| Ensembl ID | ENSG00000114054 |
| Bio databases IDs | |
| Aliases | propionyl-CoA carboxylase subunit beta |
| Synonyms | 1300012P06Rik, betaPCC, Ppcb, Propionyl-CoA Carboxylase beta, propionyl-CoA carboxylase subunit beta, propionyl-CoA carboxylase subunit β, Propionyl-CoA Carboxylase β, propionyl Coenzyme A carboxylase, beta polypeptide, propionyl Coenzyme A carboxylase, β polypeptide, βPCC |
| 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 PCCB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- propionyl-CoA carboxylase
- enzyme
- protein binding
- methylmalonyl-CoA decarboxylase alpha subunit
- Carboxyl transferase domain
Pathways
Biological processes and signaling networks where the PCCB gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- propionic acidemia
- hereditary disorder
- neuroticism
- metabolic syndrome X
- myocardial infarction
- venous thromboembolism
- coronary artery disease
- early onset hypertension
regulates
- fatty acid
- amino acids
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 PCCB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- short-chain fatty acid catabolic process
- branched chain family amino acid metabolic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- propionyl-CoA carboxylase activity
- protein binding