Ndufa2 Gene Summary [Mouse]
This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. The human ortholog of this gene has been characterized, and its structure and redox potential is reported to be similar to that of thioredoxins. It may be involved in regulating complex I activity or assembly via assistance in redox processes. In humans, mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. A pseudogene of this gene is located on chromosome 5. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | Ndufa2 |
| Official Name | NADH:ubiquinone oxidoreductase subunit A2 [Source:MGI Symbol;Acc:MGI:1343103] |
| Ensembl ID | ENSMUSG00000014294 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit A2 |
| Synonyms | B8, C1-B8, CD14, CI-B8, Complex I-B8, MC1DN13, Nadh dehydrogenase(ubiquinone) 1 alpha subcomplex 7, Nadh dehydrogenase(ubiquinone) 1 subcomplex 2, Nadh dehydrogenase(ubiquinone) 1 α subcomplex 7, NADH:ubiquinone oxidoreductase subunit A2 |
| Species | Mouse, Mus musculus |
| 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 mouse Ndufa2 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
- NADH2 dehydrogenase (ubiquinone)
- Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain
Pathways
Biological processes and signaling networks where the Ndufa2 gene in mouse 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
- nuclear type 13 mitochondrial complex I deficiency
- cystic leukoencephalopathy
- insulin resistance
- mitochondrial disorder
- Leigh syndrome
- Huntington disease
- paroxysmal nocturnal hemoglobinuria
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- pervasive developmental disorder
role in cell
- mitochondrial respiration in
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 membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ndufa2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- mitochondrial electron transport, NADH to ubiquinone
- blastocyst hatching
- mitochondrial respiratory chain complex I assembly
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- respiratory chain complex I
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase (ubiquinone) activity