TMEM126A Gene Summary [Human]
The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TMEM126A |
| Official Name | transmembrane protein 126A [Source:HGNC Symbol;Acc:HGNC:25382] |
| Ensembl ID | ENSG00000171202 |
| Bio databases IDs | |
| Aliases | transmembrane protein 126A |
| Synonyms | 1810020E01Rik, OPA7, RGD1305677, T126A, transmembrane protein 126A |
| 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 TMEM126A 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
- Plasma Membrane
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM126A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein insertion into mitochondrial membrane from inner side
- toll-like receptor 4 signaling pathway
- mitochondrial respiratory chain complex I assembly
- optic nerve development
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
- plasma membrane