SLC1A6 Gene
Overview
Slc1A6 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.
Introduction
Slc1A6 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. [@ref1992]
<div class="infobox infobox-gene"> [@ref1993]
SLC1A6 [@ref1994a]
- Solute Carrier Family 1 Member 6 (EAAT4)
| | | [@ref2001]
|---|---| [@ref1999]
|
Symbol | SLC1A6 |
|
Full Name | Solute Carrier Family 1 Member 6 (EAAT4) |
|
Chromosome | 19p13.12 |
|
NCBI Gene ID | [6512](https://www.ncbi.nlm.nih.gov/gene/6512) |
|
OMIM | [133010](https://www.omim.org/entry/133010) |
|
Ensembl ID | [ENSG00000105143](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105143) |
|
UniProt ID | [P22732](https://www.uniprot.org/uniprot/P22732) |
|
Encoded Protein | [EAAT4](/proteins/eaat4-protein) |
|
Associated Diseases | [Epilepsy](/diseases/epilepsy), [Ataxia](/diseases/ataxia), [Neurodegeneration](/diseases/neurodegeneration) |
</div>
Function
...SLC1A6 Gene
Overview
Slc1A6 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.
Introduction
Slc1A6 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. [@ref1992]
<div class="infobox infobox-gene"> [@ref1993]
SLC1A6 [@ref1994a]
- Solute Carrier Family 1 Member 6 (EAAT4)
| | | [@ref2001]
|---|---| [@ref1999]
|
Symbol | SLC1A6 |
|
Full Name | Solute Carrier Family 1 Member 6 (EAAT4) |
|
Chromosome | 19p13.12 |
|
NCBI Gene ID | [6512](https://www.ncbi.nlm.nih.gov/gene/6512) |
|
OMIM | [133010](https://www.omim.org/entry/133010) |
|
Ensembl ID | [ENSG00000105143](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105143) |
|
UniProt ID | [P22732](https://www.uniprot.org/uniprot/P22732) |
|
Encoded Protein | [EAAT4](/proteins/eaat4-protein) |
|
Associated Diseases | [Epilepsy](/diseases/epilepsy), [Ataxia](/diseases/ataxia), [Neurodegeneration](/diseases/neurodegeneration) |
</div>
Function
The SLC1A6 gene encodes the excitatory amino acid transporter 4 (EAAT4), a member of the solute carrier family 1. EAAT4 is a high-affinity glutamate transporter responsible for clearing glutamate from the extracellular space in specific brain regions, particularly the cerebellum and cerebral [cortex](/brain-regions/cortex).
EAAT4 operates as a sodium-dependent glutamate transporter, cotransporting one glutamate molecule with three sodium ions and one hydrogen ion, while countertransporting one potassium ion. This electrogenic process maintains low extracellular glutamate concentrations, preventing excitotoxicity which can lead to neuronal damage.
EAAT4 has a distinctive structure with eight transmembrane domains and a intracellular C-terminus. The protein is unique among EAATs in its high expression in Purkinje cells of the cerebellum, where it plays a critical role in modulating cerebellar synaptic plasticity and motor learning. Dysfunction of EAAT4 has been implicated in epilepsy, ataxia, and various neurodegenerative conditions where excitotoxicity plays a role.
Disease Associations
| Disease | Inheritance | Key Mutations |
|---------|-------------|---------------|
| Epilepsy | Various | Pathogenic variants |
| Ataxia | Various | Pathogenic variants |
| Neurodegeneration | Various | Pathogenic variants |
Expression
SLC1A6/EAAT4 is predominantly expressed in:
- Cerebellum (high in Purkinje cells)
- Cerebral cortex (layer 1-6)
- [Hippocampus](/brain-regions/hippocampus) (stratum radiatum)
- Basal ganglia
- [Thalamus](/brain-regions/thalamus)
- Retina
The highest expression is in cerebellar Purkinje cells, where EAAT4 is localized to the [dendritic spines](/mechanisms/dendritic-spines) and extrasynaptic membranes, serving as a major glutamate clearance mechanism.
Key Publications
[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/6512)
[UniProt Entry](https://www.uniprot.org/uniprot/P22732)Cross-Links
- [Protein: EAAT4](/proteins/eaat4-protein)
- [Epilepsy](/diseases/epilepsy), [Ataxia](/diseases/ataxia), [Neurodegeneration](/diseases/neurodegeneration)
Overview
Slc1A6 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.
Background
The study of Slc1A6 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.
See Also
- [/mechanisms/synaptic-dysfunction-ad](/mechanisms/synaptic-dysfunction)mechanisms/synaptic-dysfunction)
- [/entities/nmda-receptor](/entities/nmda-receptor)
- [/diseases](/diseases)
- [/mechanisms](/mechanisms)
- [/all-pages](/all-pages)
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
[Unknown, 7542809 (1994)](https://doi.org/10.1038/360467a0)
[Unknown, 8624976 (1992)](https://doi.org/10.1073/pnas.89.22.10955)
[Unknown, 10349610 (1993)](https://pubmed.ncbi.nlm.nih.gov/10349610/)
[Unknown, 11306659 (1994)](https://doi.org/10.1523/JNEUROSCI.14-09-05559.1994)
[Unknown, 14601077 (2001)](https://doi.org/10.1016/s0301-0082(00)
[Unknown, 15797866 (1999)](https://doi.org/10.1146/annurev.pharmtox.39.1.431)