SLC52A3 Gene - Riboflavin Transporter | Function, Mutations & Disease

SLC52A3 (Solute Carrier Family 52 Member 3) encodes a transmembrane protein that functions as a riboflavin (vitamin B2) transporter. It mediates cellular uptake of riboflavin, which is essential for the synthesis of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), cofactors for numerous redox enzymes. The gene is located on chromosome 20p13 and is expressed in various tissues, including small intestine, placenta, and brain. Mutations in SLC52A3 cause Brown-Vialetto-Van Laere syndrome (BVVLS), a rare neurological disorder characterized by sensorineural deafness, pontobulbar palsy, and respiratory insufficiency.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Riboflavin metabolism (Reactome: R-HSA-196836)

• Vitamin B2 (riboflavin) transport (Reactome: R-HSA-196819)

SLC52A3 encodes a 469-amino acid protein with 11 transmembrane domains, belonging to the SLC52 family of riboflavin transporters. It localizes to the plasma membrane and mediates high-affinity riboflavin uptake in a sodium-independent manner. The protein is essential for maintaining intracellular flavin levels, particularly in tissues with high metabolic demand such as the nervous system. Defects in this transporter lead to impaired FMN and FAD synthesis, disrupting mitochondrial electron transport chain function and causing neurodegeneration.