| Solute Carrier Family 25 Member 1 | |
|---|---|
| Gene Symbol | SLC25A1 |
| Full Name | Solute carrier family 25 member 1 (Mitochondrial citrate carrier) |
| Chromosome | 22q11.21 |
| NCBI Gene ID | 84069 |
| OMIM | 616658 |
| Ensembl ID | ENSG00000100100 |
| UniProt ID | Q9BRA2 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Mitochondrial Disorders, Dystonia |
SLC25A1 (Solute Carrier Family 25 Member 1), also known as the mitochondrial citrate carrier, is a nuclear-encoded mitochondrial transporter protein. This gene encodes a carrier protein that transports citrate from the mitochondrion to the cytosol, where it provides acetyl-CoA for fatty acid synthesis and lipid metabolism. In the brain, SLC25A1 plays a role in metabolic regulation and has been implicated in various neurological conditions. The citrate carrier is essential for maintaining cellular energy metabolism and biosynthetic processes, particularly in highly metabolic tissues like the brain. Dysregulation of SLC25A1 may contribute to metabolic disorders and neurodegeneration through effects on mitochondrial function and lipid homeostasis.
SLC25A1 encodes the mitochondrial citrate carrier, a member of the mitochondrial carrier family. It transports citrate and other metabolites across the mitochondrial inner membrane, linking cytosolic and mitochondrial metabolism. The citrate carrier is important for fatty acid synthesis, gluconeogenesis, and cellular energy metabolism.
Widely expressed, with high expression in metabolically active tissues including brain. Mitochondrial localization.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Various | Risk factor | Mitochondrial dysfunction, metabolic deficits |
| Parkinson's Disease | Various | Risk factor | Impaired mitochondrial metabolism |
| Mitochondrial Disorders | Various | Various | Primary metabolic dysfunction |
| Dystonia | Various | Various | Basal ganglia metabolic defects |