Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC19A3

Reviewed January 2014

What is the official name of the SLC19A3 gene?

The official name of this gene is “solute carrier family 19 (thiamine transporter), member 3.”

SLC19A3 is the gene's official symbol. The SLC19A3 gene is also known by other names, listed below.

What is the normal function of the SLC19A3 gene?

The SLC19A3 gene provides instructions for making a protein called a thiamine transporter, which moves a vitamin called thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet. It is involved in many cellular processes, and is necessary for proper functioning of the nervous system. Molecules made from thiamine are important in the breakdown of sugars and protein building blocks (amino acids). Thiamine is also involved in the production of certain chemicals that relay signals in the nervous system (neurotransmitters).

Does the SLC19A3 gene share characteristics with other genes?

The SLC19A3 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 SLC19A3 gene related to health conditions?

biotin-thiamine-responsive basal ganglia disease - caused by mutations in the SLC19A3 gene

At least seven mutations in the SLC19A3 gene have been identified in people with biotin-thiamine-responsive basal ganglia disease, a disorder that involves recurrent episodes of brain dysfunction (encephalopathy) and a variety of neurological problems that gradually get worse. SLC19A3 gene mutations likely result in a protein with impaired ability to transport thiamine into cells, resulting in decreased absorption of the vitamin and leading to neurological dysfunction. Using medical imaging, abnormalities can be seen in several parts of the brain, including a group of structures called the basal ganglia, which help control movement, but the relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown.

other disorders - caused by mutations in the SLC19A3 gene

SLC19A3 gene mutations have also been identified in individuals with other neurological disorders whose signs and symptoms overlap those of biotin-thiamine-responsive basal ganglia disease (described above). These include a disorder called early infantile lethal encephalopathy and another disorder that begins in early infancy and causes seizures and brain deterioration (atrophy). A small number of individuals with signs and symptoms similar to those of the neurological disorders Leigh syndrome and Wernicke encephalopathy have also been found to have SLC19A3 gene mutations. It is unclear why mutations in this gene cause varying signs and symptoms in different individuals.

Where is the SLC19A3 gene located?

Cytogenetic Location: 2q37

Molecular Location on chromosome 2: base pairs 227,685,209 to 227,718,097

The SLC19A3 gene is located on the long (q) arm of chromosome 2 at position 37.

The SLC19A3 gene is located on the long (q) arm of chromosome 2 at position 37.

More precisely, the SLC19A3 gene is located from base pair 227,685,209 to base pair 227,718,097 on chromosome 2.

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 SLC19A3?

You and your healthcare professional may find the following resources about SLC19A3 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 SLC19A3 gene or gene products?

  • BBGD
  • S19A3_HUMAN
  • solute carrier family 19, member 3
  • thiamine transporter 2
  • THMD2
  • THTR2
  • thTr-2

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 SLC19A3?

acids ; atrophy ; biotin ; breakdown ; carrier ; encephalopathy ; gene ; imaging ; nervous system ; neurological ; neurotransmitters ; 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

  • Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23742248?dopt=Abstract)
  • Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293. (http://www.ncbi.nlm.nih.gov/pubmed/20065143?dopt=Abstract)
  • El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics. 2008 Oct;39(5):268-71. doi: 10.1055/s-0028-1128152. Epub 2009 Mar 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19294600?dopt=Abstract)
  • Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. (http://www.ncbi.nlm.nih.gov/pubmed/23423671?dopt=Abstract)
  • Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12. (http://www.ncbi.nlm.nih.gov/pubmed/23482991?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/80704)
  • OMIM: SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 3 (http://omim.org/entry/606152)
  • Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26. (http://www.ncbi.nlm.nih.gov/pubmed/23269594?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: January 2014
Published: October 27, 2014