NDUFB8 Gene Summary [Human]
Involved in mitochondrial respiratory chain complex I assembly. Located in endoplasmic reticulum and mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | NDUFB8 |
| Official Name | NADH:ubiquinone oxidoreductase subunit B8 [Source:HGNC Symbol;Acc:HGNC:7703] |
| Ensembl ID | ENSG00000166136 |
| Bio databases IDs | |
| Aliases | NADH:ubiquinone oxidoreductase subunit B8, complex I ASHI subunit |
| Synonyms | 2900010I05Rik, ASHI, CI-ASHI, Complex-I Ubiquinone Oxidoreductase Subunit Ashi, MC1DN32, NADH:ubiquinone oxidoreductase subunit B8 |
| 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 NDUFB8 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
- NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)
Pathways
Biological processes and signaling networks where the NDUFB8 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
- Alzheimer disease
- chromophobe renal cell carcinoma
- chromophobe renal cancer
- nuclear type 32 mitochondrial complex I deficiency
- Leigh syndrome
- insulin resistance
- adult acute myeloid leukemia
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
- Endoplasmic Reticulum
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NDUFB8 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
- 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
- respiratory chain complex I
- mitochondrial matrix
- mitochondrion
- endoplasmic reticulum
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- NADH dehydrogenase (ubiquinone) activity