SCO2 Gene Summary [Human]
Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | SCO2 |
| Official Name | synthesis of cytochrome C oxidase 2 [Source:HGNC Symbol;Acc:HGNC:10604] |
| Ensembl ID | ENSG00000284194 |
| Bio databases IDs | |
| Aliases | synthesis of cytochrome C oxidase 2 |
| Synonyms | CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, SCO2 cytochrome c oxidase assembly protein, synthesis of cytochrome C oxidase 2, TdRPase, TP, TYMP |
| 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 SCO2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein disulfide oxidoreductase
- Thioredoxin-like
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- SCO1/SenC
- AhpC/TSA family
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the SCO2 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
- fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency 1
- psoriasis
- systemic lupus erythematosus
- myopia type 6
- lung adenocarcinoma
- lung adenocarcinoma formation
- Leigh syndrome
- mitochondrial DNA depletion syndrome 1 (MNGIE type)
- pemphigus foliaceus
- primary dilated cardiomyopathy
role in cell
- necrosis
- respiration
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
- mitochondrial inner membrane
- myofibrils
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCO2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial respiratory chain complex IV assembly
- eye development
- cellular copper ion homeostasis
- in utero embryonic development
- respiratory electron transport chain
- response to activity
- muscle system process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
- myofibril
Molecular Function
What the gene product does at the molecular level
- protein disulfide oxidoreductase activity
- protein binding
- copper ion binding
- copper chaperone activity