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

TG gene

The TG gene provides instructions for making thyroglobulin, a protein essential for the production of thyroid hormones that regulate metabolism and growth.

Normal Function

The TG gene provides instructions for making thyroglobulin, one of the largest proteins in the body. Found exclusively in the thyroid gland, thyroglobulin combines with iodine and is broken down to release thyroid hormones. These hormones are vital for regulating growth, brain development, and metabolism. Thyroglobulin also acts as a storage site for iodine and inactive thyroid hormone.

Health Conditions Related to Genetic Changes

Congenital hypothyroidism

Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by low thyroid hormone levels from birth. These mutations alter the 3-dimensional shape of thyroglobulin, reducing the amount of properly structured protein available for hormone synthesis. This is classified as thyroid dyshormonogenesis. Many affected individuals develop an enlarged thyroid gland (goiter) as the body attempts to compensate for reduced hormone production.

Graves' disease

The TG gene is associated with Graves' disease.

Hashimoto's disease

The TG gene is associated with Hashimoto's disease.

Other disorders

Some individuals with TG gene mutations develop a goiter but maintain normal or near-normal thyroid hormone levels. In these cases, the thyroid gland enlarges to compensate for the reduced availability of properly structured thyroglobulin. Because this compensation is successful, these individuals do not exhibit the other symptoms of congenital hypothyroidism.

Other Names for This Gene

  • AITD3
  • TGN
  • THYG_HUMAN

Frequently Asked Questions

Congenital hypothyroidism is usually detected through routine newborn screening programs, which measure thyroid hormone levels in a blood sample taken shortly after birth. If initial screening results are abnormal, further blood tests are performed to confirm low thyroid hormone levels and elevated thyroid-stimulating hormone (TSH). Genetic testing for TG gene mutations may then be conducted to identify the specific cause of the condition.
In congenital hypothyroidism, TG gene mutations lead to significantly reduced or absent thyroid hormone production, causing symptoms like poor growth and developmental delays if untreated. In contrast, some TG gene mutations can cause a goiter (enlarged thyroid gland) where the thyroid works harder to compensate, successfully maintaining normal or near-normal thyroid hormone levels. These individuals typically do not experience the other symptoms of congenital hypothyroidism because the compensation is effective.
The standard treatment involves daily oral thyroid hormone replacement therapy, typically with levothyroxine, starting as soon as possible after diagnosis. With consistent and appropriate treatment, most children with congenital hypothyroidism due to TG gene mutations can achieve normal growth, brain development, and overall health, leading to a good long-term outlook.
Yes, congenital hypothyroidism caused by TG gene mutations is typically inherited in an autosomal recessive pattern. This means both parents must carry a copy of the mutated gene for their child to be affected. If one child has the condition, there is a 25% chance of subsequent children also being affected. Genetic counseling is recommended for families to understand inheritance patterns and reproductive risks.
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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