SLC25A12 Gene

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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

Overview

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

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.

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/)

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SLC25A12 Gene

SLC25A12 Gene

Overview

Introduction

SLC25A12 Gene

Overview

Introduction

Gene Overview

Function

Molecular Function

Tissue Distribution

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Parkinson's Disease

Alzheimer's Disease

Other Associations

Therapeutic Implications

Key Publications

Expression Pattern

Disease Mechanisms

Therapeutic Implications

Animal Models

Overview

Background

See Also

External Links

References