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 the diet because the body cannot produce thiamine on its own. Many different foods contain thiamine, including whole grains, pasta, fortified breads and cereals, lean meats, fish, and beans.
Health Conditions Related to Genetic Changes
Thiamine-responsive megaloblastic anemia syndrome
At least 17 mutations in the SLC19A2 gene have been found to cause thiamine-responsive megaloblastic anemia syndrome. Most of these mutations lead to the production of an abnormally short, nonfunctional thiamine transporter 1. Other mutations 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 mutations prevent thiamine transporter 1 from bringing thiamine into the cell.
It remains unclear how the absence of thiamine transporter 1 leads to the seemingly unrelated symptoms of megaloblastic anemia, diabetes, and hearing loss. Research suggests that an alternative method for transporting thiamine is present in all the cells of the body, except where blood cells and insulin are formed (in the bone marrow and pancreas, respectively) and cells in the inner ear.
More About This Health ConditionOther Names for This Gene
- high affinity thiamine transporter
- reduced folate carrier protein (RFC) like
- S19A2_HUMAN
- solute carrier family 19 (thiamine transporter), member 2
- solute carrier family 19, member 2
- TC1
- thiamine transporter 1
- THT1
- THTR1
- TRMA
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Baron D, Assaraf YG, Cohen N, Aronheim A. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med. 2002 Aug;8(8):462-74. Citation on PubMed or Free article on PubMed Central
- Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul;22(3):309-12. doi: 10.1038/10385. Citation on PubMed
- Liberman MC, Tartaglini E, Fleming JC, Neufeld EJ. Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol. 2006 Sep;7(3):211-7. doi: 10.1007/s10162-006-0035-x. Epub 2006 Apr 27. Citation on PubMed or Free article on PubMed Central
- Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr. 2006 Jan;95(1):99-104. doi: 10.1080/08035250500323715. Citation on PubMed
- Sako S, Tsunogai T, Oishi K. Thiamine-Responsive Megaloblastic Anemia Syndrome. 2003 Oct 24 [updated 2022 Jul 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1282/ Citation on PubMed
- Subramanian VS, Marchant JS, Parker I, Said HM. Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms. J Biol Chem. 2003 Feb 7;278(6):3976-84. doi: 10.1074/jbc.M210717200. Epub 2002 Nov 25. Citation on PubMed
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