MT-ND6 Gene Summary [Human]
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Predicted to be located in mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominante 2B. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ND6 |
| Official Name | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 [Source:HGNC Symbol;Acc:HGNC:7462] |
| Ensembl ID | ENSG00000198695 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6, complex I ND6 subunit, NADH-ubiquinone oxidoreductase chain 6 |
| Synonyms | NADH dehydrogenase subunit 6, ND6 |
| 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 MT-ND6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADH-quinone oxidoreductase subunit J
- NADH-ubiquinone/plastoquinone oxidoreductase chain 6
- enzyme
- NADH2 dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the MT-ND6 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
- neoplasia
- epithelial neoplasia
- benign neoplasia
- adenoma formation
- retinal dystrophy
- Parkinson disease 6
- seizures
- glioma formation
- Leigh syndrome
- precursor B-cell acute lymphoblastic leukemia
role in cell
- quantity
- production in
- growth
- accumulation
- binding in
- activation
- respiration
- consumption in
- swelling
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MT-ND6 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
- response to cocaine
- mitochondrial respiratory chain complex I assembly
- response to hydrogen peroxide
- response to nicotine
- aerobic respiration
- 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 (ubiquinone) activity