Slc25A13 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.
Slc25A13 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.
SLC25A13 (Solute Carrier Family 25 Member 13), also known as Citarin or Aralar2, is a mitochondrial aspartate/glutamate carrier closely related to SLC25A12. It plays important roles in mitochondrial metabolism, urea cycle function, and cellular energetics.
| Attribute | Value |
|---|---|
| Gene Symbol | SLC25A13 |
| Full Name | Solute Carrier Family 25 Member 13 (Citarin/Aralar2) |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 5105 |
| OMIM | 603709 |
| Ensembl ID | ENSG00000004864 |
| UniProt ID | Q9H0M0 |
SLC25A13 is a calcium-dependent mitochondrial aspartate/glutamate carrier that functions in the malate-aspartate shuttle and supports various metabolic pathways including the urea cycle and gluconeogenesis.
High expression in:
| Approach | Status | Description |
|---|---|---|
| Diet Modification | Standard of Care | Low-protein diet, arginine supplementation |
| Liver Transplantation | Curative | For severe/early-onset cases |
| Gene Therapy | Research | AAV-mediated gene delivery |
| Metabolic Cofactors | Research | L-carnitine, arginine, citrulline |
Sinasac DS, et al. (1999). "Genomic structure and chromosomal localization of SLC25A13." Genomics. PMID:10486220
Kobayashi K, et al. (1999). "The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein." Nat Genet. PMID:10486220
Yasuda T, et al. (2000). "SLC25A13 mutation analysis in patients with CTLN2." J Hum Genet. PMID:10804050
Saheki T, et al. (2010). "Citrullinemia type II." Brain Dev. PMID:19837595
Haeussinger D, et al. (2021). "Mitochondrial transporters in hepatic metabolism." J Hepatol. PMID:33852843
Slc25A13 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 Slc25A13 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.