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TGFB3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TGFB3 gene

The TGFB3 gene encodes the TGFβ-3 protein, which is essential for skeletal muscle development and the regulation of various cellular processes.

Normal Function

The TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3). Like other members of the TGF-β pathway, this protein binds to cell surface receptors to control cell proliferation, differentiation, motility, and apoptosis. By regulating these processes, TGFβ-3 helps prevent uncontrolled cell growth and tumor formation.

TGFβ-3 is particularly abundant in tissues that develop into skeletal muscles and plays a key role in their development. It is also involved in blood vessel formation, bone growth regulation, wound healing, and immune system function.

Health Conditions Related to Genetic Changes

Loeys-Dietz syndrome

At least 11 mutations in the TGFB3 gene have been found to cause Loeys-Dietz syndrome type V. This connective tissue disorder is characterized by blood vessel abnormalities, heart defects, and skeletal deformities.

  • Mutations result in a TGFβ-3 protein with little or no function, preventing receptor binding.
  • Similar to other types of Loeys-Dietz syndrome, this loss of function leads to an overactive TGF-β signaling pathway, which disrupts the development of connective tissue and various body systems.

Arrhythmogenic right ventricular cardiomyopathy

MedlinePlus Genetics provides information about Arrhythmogenic right ventricular cardiomyopathy.

Frequently Asked Questions

While the primary impact of TGFB3 mutations in Loeys-Dietz syndrome type V is on connective tissue, its role in skeletal muscle development suggests potential, though less prominent, effects on muscle. Individuals might experience generalized muscle weakness or fatigue, or specific muscle-related issues could contribute to the overall connective tissue fragility and skeletal deformities seen in the syndrome.
Yes, Loeys-Dietz syndrome type V is inherited in an autosomal dominant manner. An affected individual has a 50% chance of passing the TGFB3 mutation to each child. Genetic counseling is crucial for affected individuals and their families to understand the inheritance pattern, assess risks for other family members, and discuss reproductive options and prenatal testing.
Individuals with Loeys-Dietz syndrome type V due to TGFB3 mutations face a high risk of aortic aneurysms and dissections, similar to other Loeys-Dietz types, which can be life-threatening. Additionally, TGFB3 mutations are associated with Arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart muscle disorder that can lead to dangerous heart rhythm problems (arrhythmias) and sudden cardiac death.
Diagnosis involves a clinical assessment of characteristic features, imaging studies (like echocardiograms and MRI/CT scans) to evaluate the aorta and other vessels, and genetic testing to identify TGFB3 mutations. Management includes regular cardiovascular monitoring, medications to reduce aortic stress, and surgical repair of aneurysms. Skeletal issues, such as scoliosis or joint laxity, are managed with orthopedic care and physical therapy.
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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