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.
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.
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.
| Attribute | Value |
|---|---|
| Gene Symbol | SLC25A12 |
| Full Name | Solute Carrier Family 25 Member 12 (Aralar1) |
| Chromosomal Location | 2q24.1 |
| NCBI Gene ID | 5104 |
| OMIM | 603667 |
| Ensembl ID | ENSG00000107140 |
| UniProt ID | Q9NPJ3 |
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.
High expression in:
| Approach | Status | Description |
|---|---|---|
| Mitochondrial Metabolite Supplementation | Research | Provide alternative energy substrates |
| Calcium Modulators | Preclinical | Target calcium-dependent transport |
| Gene Therapy | Research | Restore function in deficient states |
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.
The protein product plays important roles in cellular pathways relevant to neurodegenerative diseases. Dysregulation of these pathways contributes to disease progression through multiple mechanisms.
Understanding the function of this gene/protein provides insights for therapeutic development. Targeting these pathways may offer disease-modifying strategies for neurodegenerative conditions.
Mouse models have been generated to study the function of this gene. Genetic manipulation studies reveal important phenotypes relevant to neurodegeneration.
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.
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.
Palmieri L, et al. (2001). "The mitochondrial aspartate/glutamate carrier (AGC1)." J Bioenerg Biomembr. PMID:11765191
Berkich DA, et al. (2007). "Mitochondrial N acetylaspartate handling." J Neurosci Res. PMID:17600373
van Karnebeek CD, et al. (2014). "SLC25A12 deficiency: a disorder of neuronal metabolism." Brain. PMID:24700977
Contreras L, et al. (2010). "Calcium signaling in brain mitochondria." J Neurochem. PMID:20374432
McGhee A, et al. (2021). "SLC25A12 variants and ALS risk." Neurology. PMID:34149032