Timm8A Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Timm8A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
TIMM8A (Translocase of Inner Mitochondrial Membrane Subunit 8A) is a small mitochondrial inner membrane protein involved in the import of nuclear-encoded mitochondrial proteins. It functions as part of the small TIM chaperone complex that guides proteins across the intermembrane space.
| Attribute | Value |
|---|---|
| Gene Symbol | TIMM8A |
| Full Name | Translocase of Inner Mitochondrial Membrane Subunit 8A |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 10578 |
| OMIM | 300356 |
| Ensembl ID | ENSG00000126945 |
| UniProt ID | O60220 |
TIMM8A is a member of the small TIM chaperone family (TIM8, TIM9, TIM10, TIM13) that facilitates protein translocation across the mitochondrial intermembrane space. These proteins form a hexameric complex that acts as a molecular chaperone.
High expression in:
| Approach | Status | Description |
|---|---|---|
| Gene Therapy | Research | AAV-delivered TIMM8A to restore function |
| Small Molecule Chaperones | Research | Compounds that enhance mitochondrial protein import |
| Antioxidants | Experimental | CoQ10 and other mitochondrial antioxidants |
Tranebjaerg L, et al. (1995). "X-linked recessive deafness dystonia syndrome." Brain Dev. PMID:8541223
Koehler CM, et al. (1999). "The small Tim proteins facilitate the import of carrier proteins into mitochondria." Nature. PMID:10517498
Rohe J, et al. (2005). "A splice site mutation in TIMM8A causing isolated deafness-dystonia syndrome." Neurology. PMID:15956176
4.Bindoff LA, et al. (2011). "Mitochondrial protein import dysfunction in neurodegenerative disease." J Neurochem. PMID:21250769
Timm8A Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Timm8A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.