DISEASES

Disease-gene associations mined from literature

Literature associating SLC52A3 and Brown-Vialetto-Van Laere syndrome

SLC52A3 [ENSP00000217254]

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 ...

Linkouts:  STRING  Pharos  UniProt