NDUFV2 Gene Summary [Human]
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NDUFV2 |
| Official Name | NADH:ubiquinone oxidoreductase core subunit V2 [Source:HGNC Symbol;Acc:HGNC:7717] |
| Ensembl ID | ENSG00000178127 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase core subunit V2, complex I 24kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial |
| Synonyms | 24KDA subunit-MITOCHONDRIAL COMPLEX 1, 2900010C23Rik, CI-24k, MC1DN7, NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, NADH:ubiquinone oxidoreductase core subunit V2, NDUV2 |
| 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 NDUFV2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Thioredoxin-like [2Fe-2S] ferredoxin
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- NADH2 dehydrogenase
- enzyme
- protein binding
- NADH2 dehydrogenase (ubiquinone)
- NADH-quinone oxidoreductase, E subunit
Pathways
Biological processes and signaling networks where the NDUFV2 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
- hereditary disorder
- schizophrenia
- leiomyomatosis
- tumorigenesis
- bipolar disorder
- adult acute myeloid leukemia
- uterine leiomyoma
- mitochondrial disorder
- insulin resistance
- nuclear type 7 mitochondrial complex I deficiency
regulates
- reactive oxygen species
role in cell
- survival
- production in
- apoptosis
- morphology
- 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
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFV2 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
- nervous system development
- aerobic respiration
- cardiac muscle tissue development
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase activity
- protein binding
- metal ion binding
- electron carrier activity
- NADH dehydrogenase (ubiquinone) activity
- 2 iron, 2 sulfur cluster binding