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Genetics Home Reference: your guide to understanding genetic conditions
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SLC19A2

Reviewed February 2009

What is the official name of the SLC19A2 gene?

The official name of this gene is “solute carrier family 19 (thiamine transporter), member 2.”

SLC19A2 is the gene's official symbol. The SLC19A2 gene is also known by other names, listed below.

What is the normal function of the SLC19A2 gene?

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.

Does the SLC19A2 gene share characteristics with other genes?

The SLC19A2 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SLC19A2 gene related to health conditions?

thiamine-responsive megaloblastic anemia syndrome - caused by mutations in the SLC19A2 gene

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.

Where is the SLC19A2 gene located?

Cytogenetic Location: 1q23.3

Molecular Location on chromosome 1: base pairs 169,463,908 to 169,485,969

The SLC19A2 gene is located on the long (q) arm of chromosome 1 at position 23.3.

The SLC19A2 gene is located on the long (q) arm of chromosome 1 at position 23.3.

More precisely, the SLC19A2 gene is located from base pair 169,463,908 to base pair 169,485,969 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC19A2?

You and your healthcare professional may find the following resources about SLC19A2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC19A2 gene or gene products?

  • high affinity thiamine transporter
  • reduced folate carrier protein (RFC) like
  • S19A2_HUMAN
  • solute carrier family 19, member 2
  • TC1
  • thiamine transporter 1
  • THT1
  • THTR1
  • TRMA

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC19A2?

acids ; anemia ; bone marrow ; carrier ; cell ; diabetes ; folate ; gene ; insulin ; megaloblastic anemia ; nervous system ; pancreas ; protein ; solute ; syndrome ; thiamine ; vitamin B1

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/12435857?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/10391223?dopt=Abstract)
  • Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1282)
  • 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. Epub 2006 Apr 27. (http://www.ncbi.nlm.nih.gov/pubmed/16642288?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10560)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16373304?dopt=Abstract)
  • 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. Epub 2002 Nov 25. (http://www.ncbi.nlm.nih.gov/pubmed/12454006?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2009
Published: September 29, 2014