HomeGeneticsGeneETFB gene
Back to Gene
ETFB gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ETFB gene

The ETFB gene provides instructions for making the beta subunit of an enzyme essential for energy production from fats and proteins.

Normal Function

The ETFB gene provides instructions for making one part (the beta subunit) of an enzyme called electron transfer flavoprotein. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein is involved in the process by which fats and proteins are broken down to produce energy.

Health Conditions Related to Genetic Changes

Glutaric acidemia type II

Some mutations in the ETFB gene prevent the production of the electron transfer flavoprotein enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the metabolic pathways that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

Other Names for This Gene

  • electron transfer flavoprotein beta subunit
  • electron transfer flavoprotein, beta polypeptide
  • electron-transfer-flavoprotein, beta polypeptide
  • ETFB_HUMAN
  • FP585

Frequently Asked Questions

Because ETFB is essential for fat and protein oxidation, people with its deficiency often experience low stamina and rapid onset of muscle cramps during physical activity. Even moderate exercise can trigger a drop in blood glucose and a feeling of extreme tiredness. Monitoring energy levels and adjusting activity intensity can help prevent crashes.
low‑fat, high‑carbohydrate diet is usually recommended, along with limiting protein intake to reduce the load on the defective enzyme. Supplementation with medium‑chain triglycerides (MCTs) can provide an alternative energy source that bypasses the impaired pathway. Regular, small meals help maintain stable blood glucose and reduce metabolic stress.
Confirmation typically involves a blood draw for DNA sequencing, often as part of a panel for metabolic disorders. The lab will look for pathogenic variants in ETFB. Results usually take 2–4 weeks, and a genetic counselor will explain the findings, inheritance pattern, and implications for family members.===
Patients with ETFB mutations may notice unexplained fatigue, muscle weakness, or difficulty gaining weight. In infants, poor feeding, vomiting, and episodes of hypoglycemia are common. If you observe sudden lethargy or a decline in exercise tolerance, it could signal a metabolic decompensation.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss