Tmem175 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.
| Gene Symbol | TMEM175 |
|---|---|
| Full Name | Transmembrane Protein 175 |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 84033 |
| OMIM | 614037 |
| Ensembl ID | ENSG00000145388 |
| UniProt ID | Q9NXU5 |
| Protein | TMEM175 |
TMEM175 (Transmembrane Protein 175) is a lysosomal potassium channel that plays a critical role in regulating lysosomal membrane potential and autophagy. It is one of the most significant genetic risk factors for Parkinson's disease (PD), identified through genome-wide association studies (GWAS).
TMEM175 encodes a proton-activated, voltage-dependent potassium (K+) channel primarily localized to lysosomes and late endosomes[1]. The channel maintains lysosomal membrane potential, which is essential for:
The channel is a member of the TMEM16/ANO family but functions as a distinct potassium-selective channel. It is constitutively active and provides a leak conductance that prevents excessive lysosomal membrane depolarization during proton pumping.
TMEM175 is a major risk gene for sporadic Parkinson's disease. The rs6593389 variant (p.Q65P) is associated with:
The TMEM175 risk variant results in:
TMEM175 is expressed in:
The protein localizes primarily to:
TMEM175 expression patterns from Allen Brain Atlas:
TMEM175 is expressed in:
| Region | Expression Level | Data Source |
|---|---|---|
| Substantia nigra | High | Mouse Brain |
| Hippocampus | High | Mouse Brain |
| Cortex | Medium | Mouse Brain |
| Cerebellum | Low | Human MTG |
References:
The study of Tmem175 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.