NDUFAF2 Gene Summary [Human]
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NDUFAF2 |
| Official Name | NADH:ubiquinone oxidoreductase complex assembly factor 2 [Source:HGNC Symbol;Acc:HGNC:28086] |
| Ensembl ID | ENSG00000164182 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase complex assembly factor 2, Myc-induced mitochondrial protein |
| Synonyms | 1810058I14Rik, B17.2L, C86051, MC1DN10, mimitin, MMTN, NADH:ubiquinone oxidoreductase complex assembly factor 2, NDUFA12L, RGD1560158 |
| 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 NDUFAF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- 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
- Alzheimer disease
- hereditary disorder
- nuclear type 10 mitochondrial complex I deficiency
- subarachnoid hemorrhage
- Leigh syndrome
- schizophrenia
- mitochondrial disorder
- insulin resistance
- Parkinson disease
- nuclear type 1 mitochondrial complex I deficiency
regulates
- Mitochondrial ETC 1
role in cell
- proliferation
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
- mitochondrial fraction
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFAF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of insulin secretion involved in cellular response to glucose stimulus
- mitochondrial respiratory chain complex I assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding