SLC52A2 encodes RFVT2 (riboflavin transporter 2), a highly specific membrane protein essential for riboflavin (vitamin B2) distribution from blood to tissues 1. The transporter recognizes riboflavin through a conserved binding pocket and mediates its cellular uptake via a specific transport mechanism 2. Riboflavin is enzymatically converted to flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which serve as critical cofactors for oxidation-reduction reactions in carbohydrate, amino acid, and lipid metabolism 1. Mutations in SLC52A2 cause Riboflavin Transporter Deficiency (RTD), also known as Brown-Vialetto-Van Laere syndrome type 2, a rare childhood-onset neurodegenerative disorder characterized by pontobulbar palsy, sensorineural hearing loss, motor weakness, and respiratory symptoms 34. Retinal ganglion cells show particular vulnerability to RTD, resulting in vision loss 5. Early riboflavin supplementation significantly improves clinical outcomes including respiratory function, motor performance, and vision when initiated before symptom onset 54. Novel therapeutic approaches include AAV9-mediated gene augmentation therapy, which successfully rescues RTD motoneuron function in vitro 3. SLC52A2 expression is elevated in multiple human cancers and correlates with patient prognosis, particularly in hepatocellular carcinoma 6.