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Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3)
- Target
- SLC52A3
- Molecular classification
- Transporter, Solute carrier family member (SLC family)
01
Overview
Solute carrier family 52, riboflavin transporter, member 3 (SLC52A3 or RFVT3) is a plasma membrane transporter responsible for the cellular uptake of riboflavin (vitamin B2), a critical cofactor required for the synthesis of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are essential for numerous oxidation-reduction reactions in cellular metabolism. Highly expressed in the apical membrane of intestinal cells and in placenta, SLC52A3 is crucial for gut absorption and fetal transfer of riboflavin. Mutations in SLC52A3 cause riboflavin transporter deficiency neuronopathy syndromes, primarily manifesting as progressive neurodegeneration (BVVLS, Fazio-Londe disease) with symptoms including hearing loss, muscle weakness, and respiratory problems. Supplementation with riboflavin improves outcomes in affected patients and animal models, demonstrating the therapeutic relevance of this transporter.
- Other names
- C20orf54RFVT3RFT2hRFT2bA371L19.1Riboflavin transporter 2solute carrier family 52 (riboflavin transporter), member 3MGC10698RFT2_HUMANBVVLSBVVLS1hypothetical protein LOC113278
02
Mechanism of action
Drugs (riboflavin) act as substrate for the SLC52A3 transporter to replenish tissue riboflavin stores and downstream coenzymes
03
Biological functions
Mediates cellular uptake and absorption of riboflavin (vitamin B2) across cell membranes, especially in intestinal enterocytesMaintains riboflavin homeostasis in tissues and during fetal developmentFacilitates intestinal riboflavin absorption and placental riboflavin transferSupports energy production by supplying riboflavin for coenzyme synthesis (FAD, FMN)
04
Disease associations
Riboflavin transporter deficiency neuronopathy (Brown-Vialetto-Van Laere syndrome/BVVLS, Fazio-Londe disease)Multiple acyl-CoA dehydrogenase deficiency (secondary to riboflavin deficiency)Neurological disorders involving motor and sensory neuron degeneration (hearing loss, facial muscle weakness, breathing difficulties)
05
Safety considerations
Mutations cause impaired absorption leading to severe riboflavin deficiency, particularly affecting nervous system, potentially fatal in neonates if untreatedInsufficient gut absorption despite normal dietary intake in affected individualsNeonatal lethality, metabolic disorders (hyperlipidemia, hypoglycemia)
06
Interacting drugs
Riboflavin (Vitamin B2) supplement
07
Biomarkers
Plasma riboflavin levelPlasma acylcarnitines (secondary marker for fatty acid oxidation defects)Urine organic acids (elevated in deficiency)
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