SLC52A3

Introduction

SLC52A3 is a gene that encodes the riboflavin transporter protein, also known as RFVT3. This protein is crucial for the transport of riboflavin (vitamin B2) across cell membranes, which is essential for various cellular processes. Riboflavin is a precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), coenzymes involved in redox reactions.

Gene and Protein Structure

The SLC52A3 gene is located on chromosome 20 in humans. It is part of the solute carrier family, specifically the SLC52 family, which includes other riboflavin transporters such as SLC52A1 and SLC52A2. The protein encoded by SLC52A3 is a multi-pass membrane protein that facilitates the uptake of riboflavin into cells.

Function

The primary function of the SLC52A3 protein is to transport riboflavin across the plasma membrane. This process is vital for maintaining adequate intracellular levels of riboflavin, which is necessary for the synthesis of FMN and FAD. These coenzymes are involved in numerous metabolic pathways, including the electron transport chain, fatty acid oxidation, and the metabolism of carbohydrates, amino acids, and lipids.

Clinical Significance

Mutations in the SLC52A3 gene can lead to riboflavin transporter deficiency, which is associated with Brown-Vialetto-Van Laere syndrome (BVVLS). This rare neurological disorder is characterized by progressive sensorineural hearing loss, cranial nerve palsies, and muscle weakness. Early diagnosis and treatment with high-dose riboflavin supplementation can improve clinical outcomes.

Research and Developments

Recent studies have focused on understanding the molecular mechanisms of riboflavin transport and the role of SLC52A3 in health and disease. Research is ongoing to explore potential therapeutic interventions for conditions associated with riboflavin transporter deficiencies.

Also see

• Riboflavin
• Brown-Vialetto-Van Laere syndrome
• SLC52A1
• SLC52A2
• Flavin adenine dinucleotide
• Flavin mononucleotide