NDUFA2 Gene Summary [Human]
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Details
| Type | Processed Transcript |
| Official Symbol | NDUFA2 |
| Official Name | NADH:ubiquinone oxidoreductase subunit A2 [Source:HGNC Symbol;Acc:HGNC:7685] |
| Ensembl ID | ENSG00000131495 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit A2, complex I B8 subunit |
| 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 | 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 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 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
- 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 human 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