2.A.125.1.2
Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFVT2, RFVT3). Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes.  Since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3, treatment with high doses of riboflavin have proven to be helpful treatments. Patients exhibit a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal (O'Callaghan et al. 2019). Intestinal RFVT3 interacts with TMEM237 (TC# 8.A.121), and this interaction has physiological/biological significance; it seems to be an inducer of RFVT3 synthesis (Sabui et al. 2019).