SUCLA2 Gene Summary [Human]
Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SUCLA2 |
| Official Name | succinate-CoA ligase ADP-forming subunit beta [Source:HGNC Symbol;Acc:HGNC:11448] |
| Ensembl ID | ENSG00000136143 |
| Bio databases IDs | |
| Aliases | succinate-CoA ligase ADP-forming subunit beta, succinate--CoA ligase (ADP-forming) |
| Synonyms | 4930547K18RIK, A-BETA, A-SCS, A-β, LINC00444, Loc361071, MTDPS5, SCS-betaA, succinate-CoA ligase ADP-forming subunit beta, succinate-CoA ligase ADP-forming subunit β, succinate-Coenzyme A ligase, ADP-forming, beta subunit, succinate-Coenzyme A ligase, ADP-forming, β subunit, Succinate-Coenzyme A ligase, beta subunit, Succinate-Coenzyme A ligase, β subunit, Succinyl-CoA ligase [ADP-forming], Succinyl-CoA ligase (ADP-forming), -chain, Succinyl CoA Synthetase beta, Succinyl CoA Synthetase β |
| 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 SUCLA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- succinyl-CoA synthetase, beta subunit
- Carbamoyl-phosphate synthase L chain, ATP binding domain
- succinate-CoA ligase (ADP-forming)
- CoA-ligase
- succinate-CoA ligase
- ATP-grasp domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- Alzheimer disease
- Huntington disease
- peripheral arterial disease
- mitochondrial DNA depletion syndrome 5 with methylmalonic aciduria
- hereditary disorder
- COVID-19
- mitochondrial DNA depletion syndrome 5
- eosinophilic esophagitis
- mitochondrial DNA depletion syndrome 5 without methylmalonic aciduria
role in cell
- binding in
- basal oxygen consumption rate
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
- myelin enriched fraction
- Mitochondria
- mitochondrial matrix
- cytoplasmic droplets
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SUCLA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- succinyl-CoA pathway
- tricarboxylic acid cycle
- succinate metabolic process
- succinyl-CoA metabolic process
Cellular Component
Where in the cell the gene product is active
- succinate-CoA ligase complex (ADP-forming)
- extracellular vesicular exosome
- mitochondrial matrix
- mitochondrion
- succinate-CoA ligase complex
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- ATP binding
- protein binding
- succinate-CoA ligase (ADP-forming) activity