SLC25A12 Gene
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">SLC25A12 Gene</th>
</tr>
<tr>
<td class="label">
Gene Symbol</td>
<td>SLC25A12</td>
</tr>
<tr>
<td class="label">
Full Name</td>
<td>Solute Carrier Family 25 Member 12 (Aralar1)</td>
</tr>
<tr>
<td class="label">
Chromosomal Location</td>
<td>2q24.1</td>
</tr>
<tr>
<td class="label">
NCBI Gene ID</td>
<td>5104</td>
</tr>
<tr>
<td class="label">
OMIM</td>
<td>603667</td>
</tr>
<tr>
<td class="label">
Ensembl ID</td>
<td>ENSG00000107140</td>
</tr>
<tr>
<td class="label">
UniProt ID</td>
<td>Q9NPJ3</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Mitochondrial Metabolite Supplementation</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Calcium Modulators</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Gene Therapy</td>
<td>Research</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
Overview
Slc25A12 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
...SLC25A12 Gene
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">SLC25A12 Gene</th>
</tr>
<tr>
<td class="label">
Gene Symbol</td>
<td>SLC25A12</td>
</tr>
<tr>
<td class="label">
Full Name</td>
<td>Solute Carrier Family 25 Member 12 (Aralar1)</td>
</tr>
<tr>
<td class="label">
Chromosomal Location</td>
<td>2q24.1</td>
</tr>
<tr>
<td class="label">
NCBI Gene ID</td>
<td>5104</td>
</tr>
<tr>
<td class="label">
OMIM</td>
<td>603667</td>
</tr>
<tr>
<td class="label">
Ensembl ID</td>
<td>ENSG00000107140</td>
</tr>
<tr>
<td class="label">
UniProt ID</td>
<td>Q9NPJ3</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Mitochondrial Metabolite Supplementation</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Calcium Modulators</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Gene Therapy</td>
<td>Research</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
Overview
Slc25A12 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
Slc25A12 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. [@berkich2007]
SLC25A12 (Solute Carrier Family 25 Member 12), also known as ARALAR1 (Aralar Suppressor of Rodent Liver cAMP), is a mitochondrial aspartate/glutamate carrier that plays a critical role in mitochondrial metabolism, neurotransmitter cycling, and cellular energetics. It is essential for the malate-aspartate shuttle, which transfers reducing equivalents across the mitochondrial membrane. [@van2014]
Gene Overview
Function
SLC25A12 is a member of the mitochondrial carrier family (SLC25) that transports metabolites across the inner mitochondrial membrane. It functions as a calcium-dependent aspartate/glutamate antiporter.
Molecular Function
- Aspartate/Glutamate Exchange: Exchanges mitochondrial aspartate for cytosolic glutamate
- Malate-Aspartate Shuttle: Essential component of NADH shuttling
- Calcium Binding: EF-hand domains sense cytosolic Ca²⁺ levels
- Metabolic Coupling: Links glycolysis to oxidative phosphorylation
Tissue Distribution
High expression in:
- Brain (cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), basal ganglia)
- Heart
- Skeletal muscle
- Liver
- Kidney
Disease Associations
Amyotrophic Lateral Sclerosis (ALS)
- Genetic Association: SLC25A12 variants are associated with ALS risk
- Motor Neuron Vulnerability: Critical for motor neuron energy metabolism
- Dysfunction in ALS: Impaired mitochondrial transport in affected [neurons](/entities/neurons)
Parkinson's Disease
- Dopaminergic Neuron Metabolism: Essential for dopaminergic neuron function
- Mitochondrial Dysfunction: Central to PD pathogenesis
- Energy Deficit: Contributes to neuronal vulnerability
Alzheimer's Disease
- Metabolic Impairment: Altered glucose metabolism in AD
- Calcium Dysregulation: Affected by [Aβ](/proteins/amyloid-beta)-induced changes
- Neurotransmitter Cycling: Impaired glutamate/aspartate handling
Other Associations
- Developmental Disorders: Rare pathogenic variants cause developmental delay
- Cardiomyopathy: Heart requires high energy output
- Epilepsy: Energy metabolism dysfunction in epileptogenesis
Therapeutic Implications
Key Publications
Expression Pattern
This gene is expressed in various brain regions with specific patterns of cellular localization. Expression levels can vary during development and in response to pathological conditions.
Disease Mechanisms
The protein product plays important roles in cellular pathways relevant to neurodegenerative diseases. Dysregulation of these pathways contributes to disease progression through multiple mechanisms.
Therapeutic Implications
Understanding the function of this gene/protein provides insights for therapeutic development. Targeting these pathways may offer disease-modifying strategies for neurodegenerative conditions.
Animal Models
Mouse models have been generated to study the function of this gene. Genetic manipulation studies reveal important phenotypes relevant to neurodegeneration.
Overview
Slc25A12 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 Slc25A12 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
- [SLC25A12 Protein](/proteins/slc25a12-protein)
- SLC25A13 Gene
- [SLC25A13 Protein](/proteins/slc25a13-protein)
- [Mitochondrial Dysfunction Pathway](/mechanisms/mitochondrial-dysfunction)
- Astrocyte-Neuron Metabolic Coupling
External Links
- [SLC25A12 - NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/56052)
- [SLC25A12 - UniProt](https://www.uniprot.org/uniprot/Q9NP79)
- [SLC25A13 - NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/10165)
- [SLC25A13 - UniProt](https://www.uniprot.org/uniprot/Q9UII2)
References
[Palmieri L, et al, (2001) (2001)](https://pubmed.ncbi.nlm.nih.gov/11765191/)
[Berkich DA, et al, (2007) (2007)](https://pubmed.ncbi.nlm.nih.gov/17600373/)
[van Karnebeek CD, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/24700977/)
[Contreras L, et al, (2010) (2010)](https://pubmed.ncbi.nlm.nih.gov/20374432/)
[McGhee A, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34149032/)