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SLC19A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC19A2 gene

The SLC19A2 gene provides instructions for making the thiamine transporter 1 protein, which is responsible for moving vitamin B1 into cells.

Normal Function

The SLC19A2 gene provides instructions for making a protein called thiamine transporter 1. This protein is located on the surface of cells, where it works to bring vitamin B1 (thiamine) into cells. Thiamine helps the body convert carbohydrates into energy, and it is also essential for the functioning of the heart, muscles, and nervous system. This vitamin must be obtained from food because the body cannot produce thiamine on its own.

Health Conditions Related to Genetic Changes

Thiamine-responsive megaloblastic anemia syndrome

Variants (also called mutations) in the SLC19A2 gene have been found to cause thiamine-responsive megaloblastic anemia syndrome, also called TRMA. TRMA is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. TRMA is called "thiamine-responsive" because the anemia can be treated with daily doses of thiamine.

  • Most SLC19A2 gene variants that cause TRMA lead to the production of an abnormally short, nonfunctional version of thiamine transporter 1.
  • Other variants change single protein building blocks (amino acids) in thiamine transporter 1, which disrupts the proper folding of the protein or prevents it from reaching the cell surface.
  • All of these variants impair the protein's ability to bring thiamine into the cell.

TRMA is treated with daily doses of thiamine because some thiamine can pass into the cell without the help of a transporter when the vitamin is present in large amounts. Research suggests that an alternative transporter made by a different gene is available to transport thiamine in many tissues of the body, but this alternative transporter may not be as active in the inner ear, the bone marrow, and the pancreas, which explains why these tissues are affected in people with TRMA.

Other Names for This Gene

  • solute carrier family 19 (thiamine transporter), member 2
  • TC1
  • thiamine transporter 1
  • THMD1
  • THT1
  • THTR1
  • TRMA

Frequently Asked Questions

Treatment usually starts with a high oral dose of thiamine (often 100–200 mg daily) and is gradually adjusted based on hemoglobin levels, blood glucose control, and hearing tests. Regular follow‑up every 4–6 weeks during the first few months helps ensure therapeutic response and allows dose titration.
The classic triad—diabetes mellitus, sensorineural hearing loss, and megaloblastic anemia—should raise suspicion. If a young patient presents with unexplained anemia and either diabetes or hearing impairment, TRMA should be considered.
Yes, family members can undergo genetic testing for the specific SLC19A2 mutation. A carrier status indicates a 50% chance of passing the mutation to offspring, so genetic counseling is recommended for family planning and early detection in children.
In addition to supplementation, a diet rich in whole grains, legumes, nuts, and lean meats can provide natural thiamine sources. Avoiding alcohol and ensuring adequate vitamin B1 intake through fortified foods can also help maintain optimal levels.
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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