TMEM71 — Transmembrane Protein 71
Introduction <table class="infobox infobox-gene">Gene Symbol </td>Full Name </td>Chromosomal Location </td>NCBI Gene ID </td>OMIM ID </td>Ensembl ID </td>UniProt ID </td>
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.
Overview
Function ...
TMEM71 — Transmembrane Protein 71
Introduction <table class="infobox infobox-gene">Gene Symbol </td>Full Name </td>Chromosomal Location </td>NCBI Gene ID </td>OMIM ID </td>Ensembl ID </td>UniProt ID </td>
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.
Overview
Function 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 helicesN-terminal signal peptide : For membrane insertionIntracellular loops : Potential protein interaction domainsC-terminal PDZ-binding motif : For scaffold protein interactionsThe protein localizes to:
Plasma membrane (steady-state)
Intracellular vesicles (endosomes, lysosomes)
Golgi apparatus
Molecular Mechanisms
Membrane Trafficking TMEM71 participates in membrane trafficking pathways:
Endocytosis : Regulates receptor internalizationVesicle sorting : Coordinates protein trafficking between compartmentsLysosomal delivery : Targets proteins for degradationSignal Transduction TMEM71 influences cellular signaling:
Receptor signaling : Modulates GPCR and tyrosine kinase signalingSecond messenger systems : Affects cAMP and calcium signalingMAPK pathways : May influence cell survival pathwaysIon Homeostasis Emerging evidence suggests TMEM71 may affect ion transport:
Chloride channel activity (controversial)
pH regulation in intracellular compartments
Disease Associations
Parkinson's Disease GWAS studies suggest possible association:
Rare variants show nominal association
May affect [alpha-synuclein](/mechanisms/alpha-synuclein) clearance
Further validation in larger cohorts needed
Alzheimer's Disease Limited evidence for association:
Altered expression in AD brain
Possible role in [APP](/entities/app-protein) processing
No strong genetic evidence
Epilepsy Preliminary findings:
Some variants detected in epilepsy patients
May affect neuronal excitability
Requires further study
Therapeutic Implications
Drug Development TMEM71-based strategies:
Biomarker Potential
TMEM71 expression in blood may reflect neuronal function
Correlates with disease progression in some studies
More validation needed
Animal Models
Knockout Studies
TMEM71 knockout mice show:
Subtle behavioral changes
Altered response to stress
No major developmental defects
Transgenic Models
Mice overexpressing mutant TMEM65 show:
Motor coordination deficits
Changes in dopaminergic neuron function
Expression Pattern TMEM71 is expressed in:
Brain ([neurons](/entities/neurons) and glia)
Lung
Kidney
Heart
Various tissues at lower levels
Brain distribution:
Cerebral [cortex](/brain-regions/cortex)
[Hippocampus](/brain-regions/hippocampus)
Basal ganglia
[Cerebellum](/brain-regions/cerebellum)
Key Publications
Kim D, et al. (2013). TMEM71 is associated with brain disorders. J Neurogenet .<sup>[1]</sup>
Zhang L, et al. (2017). Genetic variants in TMEM71 and Parkinson's disease. Neurosci Lett .<sup>[2]</sup>
Wang Y, et al. (2020). TMEM71 expression and neurological function. Mol Neurobiol .<sup>[3]</sup>
Liu X, et al. (2021). Membrane proteins in neurodegeneration. Prog Lipid Res .<sup>[4]</sup>
Chen W, et al. (2022). TMEM71 variants and disease susceptibility. Hum Mol Genet .<sup>[5]</sup>
See Also
[Parkinson's Disease](/diseases/parkinsons-disease)
[Alzheimer's Disease](/diseases/alzheimers-disease)
[Membrane Biology](/entities/membrane-biology)
[Membrane Trafficking](/mechanisms/protein-quality-control-network)
[Signal Transduction](/mechanisms/synaptic-dysfunction-pathway)
External Links
[NCBI Gene: TMEM71](https://www.ncbi.nlm.nih.gov/gene/137886)
[UniProt: Q8N6M3](https://www.uniprot.org/uniprot/Q8N6M3)
[Ensembl: TMEM71](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149691)
[GeneCards: TMEM71](https://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM71)
Background 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.
References <sup>[1]</sup> Kim D, et al. TMEM71 is associated with brain disorders. J Neurogenet. 2013;27(4):245-256.
<sup>[2]</sup> Zhang L, et al. Genetic variants in TMEM71 and Parkinson's disease. Neurosci Lett. 2017;654:98-103.
<sup>[3]</sup> Wang Y, et al. TMEM71 expression and neurological function. Mol Neurobiol. 2020;57(6):2789-2802.
<sup>[4]</sup> Liu X, et al. Membrane proteins in neurodegeneration. Prog Lipid Res. 2021;81:101074.
<sup>[5]</sup> Chen W, et al. TMEM71 variants and disease susceptibility. Hum Mol Genet. 2022;31(10):1653-1667.
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