Solute carrier family 52 member 2 (Riboflavin transporter 2) (SLC52A2)

Solute carrier family 52 member 2, commonly known as **Riboflavin transporter 2 (SLC52A2)**, is a cellular membrane protein highly expressed in the central and peripheral nervous system. It mediates the uptake and intracellular transport of riboflavin (vitamin B2), which is required for the synthesis of FMN and FAD, coenzymes involved in cellular energy metabolism and the breakdown of carbohydrates, fats, and proteins. Mutations in the SLC52A2 gene cause riboflavin transporter deficiency neuronopathy (RTD type 2), a progressive neurodegenerative disorder manifesting as sensorimotor neuropathy, hearing loss, muscle weakness, and respiratory compromise. The primary therapeutic approach is high-dose oral riboflavin, which can arrest or reverse symptoms if started promptly. Experimental gene therapy approaches are also being investigated to restore transporter function in affected neurons[1][2][3][4].

Other names

RFVT2RFT3hRFT3BVVLS2GPR172APAR1D15Ertd747eFLJ11856Riboflavin transporter 3Porcine endogenous retrovirus A receptor 1 / HuPAR-1 / PERV-A receptor 1

Supplementation restores required riboflavin intracellular concentration, rescuing coenzyme (FMN, FAD) production and neuronal function. Experimental: Gene therapy (AAV9-SLC52A2 vector) to restore functional transporter in affected neurons