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SLC52A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC52A2 gene

The SLC52A2 gene provides instructions for a riboflavin transporter protein that is essential for cellular energy production and metabolism.

Normal Function

The SLC52A2 gene provides instructions for making a riboflavin transporter protein called RFVT2 (formerly known as RFT3). This protein moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane. The RFVT2 protein is found at especially high levels in cells of the brain and spinal cord and is important for absorbing riboflavin from the bloodstream into these tissues.

In the cells of the body, including those in the brain and spinal cord, riboflavin is the core component of molecules called flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). These molecules function as coenzymes, which means they help enzymes carry out chemical reactions. FAD and FMN are involved in many different chemical reactions and are required for a variety of cellular processes. One important role of these coenzymes is in the production of energy for cells. FAD and FMN are also involved in the breakdown (metabolism) of carbohydrates, fats, and proteins.

Health Conditions Related to Genetic Changes

Riboflavin transporter deficiency neuronopathy

At least 11 mutations in the SLC52A2 gene have been found to cause riboflavin transporter deficiency neuronopathy. This neurological condition encompasses two disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. Some of the gene mutations involved in riboflavin transporter deficiency neuronopathy prevent production of the RFVT2 protein. Others lead to production of an abnormal protein with impaired ability to transport riboflavin. It is unclear how these changes lead to the nerve problems that cause hearing loss, muscle weakness in the face and limbs, and breathing problems in people with the disorder.

Other Names for This Gene

  • BVVLS2
  • D15Ertd747e
  • FLJ11856
  • G protein-coupled receptor 172A
  • GPCR41
  • GPR172A
  • hRFT3
  • PAR1
  • PERV-A receptor 1
  • porcine endogenous retrovirus A receptor 1
  • putative G-protein coupled receptor GPCR41
  • RFT3
  • RFVT2
  • riboflavin transporter 3
  • solute carrier family 52 (riboflavin transporter), member 2
  • solute carrier family 52, riboflavin transporter, member 2

Genomic Location

The SLC52A2 gene is found on chromosome 8.

Frequently Asked Questions

Patients with bulbar weakness often require speech‑language therapy and may need a feeding tube (gastrostomy) to ensure adequate nutrition and prevent aspiration. For respiratory compromise, nocturnal non‑invasive ventilation (BiPAP) or, in severe cases, tracheostomy ventilation may be necessary. Multidisciplinary care involving neurology, pulmonology, nutrition, and physical therapy optimizes quality of life.
Yes, oral riboflavin at pharmacologic doses (typically 10–20 mg/kg/day divided 2–3 times daily, up to 400 mg/day in adults) has been shown to stabilize or improve neurological function in many patients, especially when started early. Treatment is lifelong, and dosing may be adjusted based on clinical response and tolerance. Monitoring includes regular audiology, pulmonary function, and nutritional assessments.
The first symptoms often appear in infancy or early childhood and may include progressive sensorineural hearing loss, facial weakness, difficulty swallowing (dysphagia), and weakness of the limbs. Some children also develop respiratory insufficiency due to involvement of the diaphragm or intercostal muscles. Early visual disturbances or optic neuropathy can occur but are less common.
Confirmation requires molecular genetic testing. A blood sample is sent for targeted sequencing of the SLC52A2 gene or for a broader neurogenetic panel that includes this gene. Identification of biallelic pathogenic variants (one on each chromosome) establishes the diagnosis. In some cases, functional studies of riboflavin transport in fibroblasts may be performed, but they are not routinely required.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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