Gosset Molecular Classification
Transporter, Membrane Transport Protein
Other Names
SLC22A5, Organic Cation/Carnitine Transporter 2
Disease Roles
Carnitine Transporter Protein Overview
SLC22A5 (OCTN2) is a sodium-dependent, high-affinity carnitine transporter protein essential for the uptake of carnitine into cells. It plays a critical role in fatty acid metabolism by transporting long-chain fatty acids into mitochondria. Mutations in SLC22A5 cause primary systemic carnitine deficiency, a potentially life-threatening disorder. Expression/activity can be modulated by PPARγ ligands, suggesting potential therapeutic avenues for metabolic diseases.
Mechanism of Action
Upregulation of SLC22A5 expression/activity (by PPARγ ligands)
Biological Functions
Carnitine transport
Sodium-dependent carnitine symport
Organic cation transport
Fatty acid metabolism
Renal reabsorption
Disease Associations
Primary systemic carnitine deficiency
Cardiomyopathy
Hypoglycemia
Muscle weakness
Liver dysfunction
Neurological disorders
Metabolic disease
Safety Considerations
- Potential drug interactions due to organic cation transport activity
- Risk of carnitine deficiency if SLC22A5 function is impaired
Interacting Drugs
Kaempferol
Associated Biomarkers
| Biomarker |
|---|
| Carnitine levels (serum, tissue) |