TMEM126B Gene Summary [Human]
This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]
Details
| Type | Protein Coding |
| Official Symbol | TMEM126B |
| Official Name | transmembrane protein 126B [Source:HGNC Symbol;Acc:HGNC:30883] |
| Ensembl ID | ENSG00000171204 |
| Bio databases IDs | |
| Aliases | transmembrane protein 126B |
| Synonyms | 1110001A23Rik, HT007, MC1DN29, RGD1308371, transmembrane protein 126B |
| 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 TMEM126B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transmembrane protein 126
- 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
- nuclear type 29 mitochondrial complex I deficiency
- ischemic stroke
- Mitochondrial complex I deficiency
- mitochondrial disorder
- nuclear type 1 mitochondrial complex I deficiency
regulates
- Mitochondrial ETC 1
role in cell
- organization
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 TMEM126B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to food
- 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