Literature associating SLC52A3 and Brown-Vialetto-Van Laere syndrome
Solute carrier family 52 (riboflavin transporter), member 3; Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption. Riboflavin transport is Na(+)- independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride; Solute carriers
Synonyms: SLC52A3, SLC52A3p, hSLC52A3, K0A6P4, Q9NQ40 ...