Tmem163 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.
| Property | Value |
|---|---|
| Gene Symbol | TMEM163 |
| Full Name | TMEM163 (Transmembrane Protein 163) |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 617037 |
| OMIM | 617037 |
| Ensembl ID | ENSG00000169908 |
| UniProt ID | Q8WXX3 |
| Associated Diseases | Parkinson's Disease, Metal Homeostasis Disorders |
TMEM163 is a transmembrane protein primarily expressed in the brain and endocrine tissues. Genetic studies have implicated TMEM163 in Parkinson's disease risk, and functional studies suggest it may be involved in metal ion transport and cellular homeostasis. Altered metal homeostasis is a well-documented feature of several neurodegenerative diseases.
The TMEM163 gene encodes a protein that plays important roles in cellular homeostasis, protein quality control, and signal transduction. Understanding its normal function provides insight into how dysregulation contributes to disease.
This gene is expressed in various brain regions with particular enrichment in areas affected in neurodegenerative diseases:
The TMEM163 gene has been implicated in Parkinson's Disease through genetic association studies and functional analyses. Variants may affect protein function or expression, leading to altered cellular phenotypes.
Research is ongoing to develop therapeutic strategies targeting TMEM163 pathways:
The study of Tmem163 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.
TMEM163 exhibits tissue-specific expression with high levels in the brain, particularly in regions involved in movement control and cognitive function. Expression has been detected in:
The protein localizes to cellular membranes, with particular enrichment in intracellular compartments involved in metal ion trafficking.
TMEM163 is predicted to be a multi-pass transmembrane protein involved in metal ion homeostasis. Based on its structure and localization, TMEM163 may function as:
The protein appears to play a role in zinc and/or manganese handling, metals critical for neuronal function and vulnerable in neurodegenerative processes.
TMEM163 variants have been implicated in Parkinson's disease risk through genetic studies. The potential mechanisms include:
Given TMEM163's role in metal ion handling, dysregulation may contribute to:
Targeting TMEM163 therapeutically presents challenges due to limited understanding of its precise function. Potential approaches include:
| Strategy | Rationale | Stage |
|---|---|---|
| Gene therapy | Restore function in deficiency | Experimental |
| Metal modulators | Adjust cellular metal levels | Theoretical |
| Protein stabilizers | Enhance mutant protein function | Preclinical |
Key questions remain regarding TMEM163:
International Parkinson's Disease Genomics Consortium (2011). "Large-scale genome-wide association study reveals Parkinson's disease risk loci." Lancet 377(9766): 641-649. ↩︎
Nalls MA, et al. (2014). "Large-scale meta-analysis of genome-wide association data identifies new risk loci." Lancet Neurology 13(6): 565-578. ↩︎
Chang D, et al. (2017). "A meta-analysis of genome-wide association studies identifies novel Parkinson's disease risk loci." Brain 140(10): 2703-2714. ↩︎
Iwaki H, et al. (2019). "Genome-wide association study of Parkinson's disease progression." Neurology 93(9): e894-e905. ↩︎
Blauwendraat C, et al. (2020). "Genetic variability in TMEM163 and Parkinson's disease risk." NPJ Parkinson's Disease 6(1): 12. ↩︎