MT-ND4L Gene Summary [Human]
Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be located in mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MT-ND4L |
| Official Name | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L [Source:HGNC Symbol;Acc:HGNC:7460] |
| Ensembl ID | ENSG00000212907 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L, complex I ND4L subunit, NADH-ubiquinone oxidoreductase chain 4L |
| Synonyms | NADH dehydrogenase subunit 4L, ND4L |
| 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-ND4L 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-ubiquinone/plastoquinone oxidoreductase chain 4L
- enzyme
- NADH2 dehydrogenase (ubiquinone)
Pathways
Biological processes and signaling networks where the MT-ND4L 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
- colorectal cancer
- familial colorectal cancer
- head and neck cancer
- Leber optic atrophy
- Huntington disease
- squamous-cell carcinoma
- squamous cell cancer
- mitochondrial disorder
role in cell
- binding in
- activation
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-ND4L 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
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex I
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase (ubiquinone) activity