Tmem71 — Transmembrane Protein 71 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Attribute |
Value |
| Gene Symbol |
TMEM71 |
| Full Name |
Transmembrane Protein 71 |
| Chromosomal Location |
15q21.3 |
| NCBI Gene ID |
137886 |
| OMIM ID |
616785 |
| Ensembl ID |
ENSG00000149691 |
| UniProt ID |
Q8N6M3 |
TMEM71 is a multipass transmembrane protein localized to the plasma membrane and intracellular vesicles. Its exact function is not well characterized but may be involved in:
- Membrane trafficking
- Signal transduction
- Ion channel regulation
¶ Gene and Protein Structure
TMEM71 encodes a 503 amino acid protein with:
- Multiple transmembrane domains: 7-9 predicted transmembrane helices
- N-terminal signal peptide: For membrane insertion
- Intracellular loops: Potential protein interaction domains
- C-terminal PDZ-binding motif: For scaffold protein interactions
The protein localizes to:
- Plasma membrane (steady-state)
- Intracellular vesicles (endosomes, lysosomes)
- Golgi apparatus
TMEM71 participates in membrane trafficking pathways:
- Endocytosis: Regulates receptor internalization
- Vesicle sorting: Coordinates protein trafficking between compartments
- Lysosomal delivery: Targets proteins for degradation
TMEM71 influences cellular signaling:
- Receptor signaling: Modulates GPCR and tyrosine kinase signaling
- Second messenger systems: Affects cAMP and calcium signaling
- MAPK pathways: May influence cell survival pathways
Emerging evidence suggests TMEM71 may affect ion transport:
- Chloride channel activity (controversial)
- pH regulation in intracellular compartments
GWAS studies suggest possible association:
- Rare variants show nominal association
- May affect alpha-synuclein clearance
- Further validation in larger cohorts needed
Limited evidence for association:
- Altered expression in AD brain
- Possible role in APP processing
- No strong genetic evidence
Preliminary findings:
- Some variants detected in epilepsy patients
- May affect neuronal excitability
- Requires further study
TMEM71-based strategies:
| Approach |
Status |
Notes |
| Small molecule modulators |
Research |
Target trafficking pathways |
| Gene therapy |
Future |
AAV delivery approaches |
- TMEM71 expression in blood may reflect neuronal function
- Correlates with disease progression in some studies
- More validation needed
- TMEM71 knockout mice show:
- Subtle behavioral changes
- Altered response to stress
- No major developmental defects
- Mice overexpressing mutant TMEM65 show:
- Motor coordination deficits
- Changes in dopaminergic neuron function
TMEM71 is expressed in:
- Brain (neurons and glia)
- Lung
- Kidney
- Heart
- Various tissues at lower levels
Brain distribution:
- Kim D, et al. (2013). TMEM71 is associated with brain disorders. J Neurogenet.[1]
- Zhang L, et al. (2017). Genetic variants in TMEM71 and Parkinson's disease. Neurosci Lett.[2]
- Wang Y, et al. (2020). TMEM71 expression and neurological function. Mol Neurobiol.[3]
- Liu X, et al. (2021). Membrane proteins in neurodegeneration. Prog Lipid Res.[4]
- Chen W, et al. (2022). TMEM71 variants and disease susceptibility. Hum Mol Genet.[5]
The study of Tmem71 — Transmembrane Protein 71 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.
[1] Kim D, et al. TMEM71 is associated with brain disorders. J Neurogenet. 2013;27(4):245-256.
[2] Zhang L, et al. Genetic variants in TMEM71 and Parkinson's disease. Neurosci Lett. 2017;654:98-103.
[3] Wang Y, et al. TMEM71 expression and neurological function. Mol Neurobiol. 2020;57(6):2789-2802.
[4] Liu X, et al. Membrane proteins in neurodegeneration. Prog Lipid Res. 2021;81:101074.
[5] Chen W, et al. TMEM71 variants and disease susceptibility. Hum Mol Genet. 2022;31(10):1653-1667.