TIMM8A Gene Summary [Human]
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TIMM8A |
| Official Name | translocase of inner mitochondrial membrane 8A [Source:HGNC Symbol;Acc:HGNC:11817] |
| Ensembl ID | ENSG00000126953 |
| Bio databases IDs | |
| Aliases | translocase of inner mitochondrial membrane 8A |
| Synonyms | DDP, DDP1, DFN1, DXHXS1274E, Fci-12, MGC12262, MTS, TIM8, Tim8a, Timm8a1, translocase of inner mitochondrial membrane 8A, translocase of inner mitochondrial membrane 8A1 |
| 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 TIMM8A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- coiled-coil domain
- Tim10/DDP family zinc finger
- protein binding
- zinc finger domain
- identical protein binding
- transporter
Pathways
Biological processes and signaling networks where the TIMM8A 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
- hereditary disorder
- Mohr-Tranebjaerg syndrome
- auditory neuropathy
- infection by HIV-1
- productive infection by HIV-1
role in cell
- growth
- depletion
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
- mitochondrial fraction
- Mitochondria
- mitochondrial intermembrane space
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TIMM8A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nervous system development
- protein import into mitochondrial inner membrane
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- mitochondrial intermembrane space protein transporter complex
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- identical protein binding
- protein binding