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Riboflavin transporter (RFVT1, RFVT2, RFVT3)

Target
RFVT1, RFVT2, RFVT3
Molecular classification
Solute carrier protein (SLC family), Membrane transporter, Transporter
01

Overview

Riboflavin transporters are membrane proteins belonging to the solute carrier family 52 (SLC52) responsible for the active, carrier-mediated uptake of riboflavin (vitamin B₂) from the extracellular space into cells. There are three characterized human riboflavin transporters (RFVT1/SLC52A1, RFVT2/SLC52A2, RFVT3/SLC52A3), each with different tissue expression profiles and physiological roles. Riboflavin is essential for the synthesis of flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN), cofactors required in a diverse range of enzymatic redox reactions involved in energy metabolism and antioxidant defense. Genetic defects in riboflavin transporters result in cellular riboflavin deficiency and are the cause of rare neurodegenerative conditions such as Brown-Vialetto-Van Laere syndrome. Riboflavin supplementation is currently the standard therapy for these transporter deficiencies, with efficacy depending on residual transporter function.

Other names
Riboflavin transporter (generic)RFVT1RFVT2RFVT3SLC52A1SLC52A2SLC52A3hRFT1hRFT2hRFT3RFT1RFT2RFT3GPR172B (for SLC52A1)GPR172A (for SLC52A2)PAR1 (for SLC52A2)PERV-A receptor 1 (for SLC52A2)
02

Mechanism of action

Therapeutic riboflavin acts as a substrate for these transporters, correcting deficiency due to transporter dysfunction. Inhibitors (in microorganisms) block riboflavin uptake.

03

Biological functions

Cellular uptake of riboflavin (vitamin B₂)Cellular energy metabolismCofactor supply for flavoprotein-dependent enzymesMitochondrial functionMaintenance of cellular redox stateRegulation of cellular senescence (notably SLC52A1)
04

Disease associations

Riboflavin transporter deficiency neuronopathy (including Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease)Neurodegenerative diseasesDeficiency syndromes due to malabsorption
05

Safety considerations

Loss-of-function mutations cause severe, sometimes fatal, neurodegenerative disorders if untreatedNo major dangers are reported for therapeutic use, other than ineffective treatment if the transporter is fully nonfunctional
06

Interacting drugs

Riboflavin

1 more in the full profile.

07

Biomarkers

Blood or cerebrospinal fluid riboflavin concentrationGenetic testing for SLC52A1, SLC52A2, SLC52A3 mutations

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