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Genetics Home Reference: your guide to understanding genetic conditions
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SLC2A1

Reviewed March 2014

What is the official name of the SLC2A1 gene?

The official name of this gene is “solute carrier family 2 (facilitated glucose transporter), member 1.”

SLC2A1 is the gene's official symbol. The SLC2A1 gene is also known by other names, listed below.

What is the normal function of the SLC2A1 gene?

The SLC2A1 gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel.

In the brain, the GLUT1 protein is involved in moving glucose, which is the brain's main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels (capillaries) and the surrounding brain tissue; it protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons).

Does the SLC2A1 gene share characteristics with other genes?

The SLC2A1 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 SLC2A1 gene related to health conditions?

GLUT1 deficiency syndrome - caused by mutations in the SLC2A1 gene

More than 150 SLC2A1 gene mutations have been reported in people with GLUT1 deficiency syndrome. This disorder leads to a variety of neurological symptoms that can include developmental delay, intellectual disability, movement problems, and frequent seizures (epilepsy). The mutations that cause GLUT1 deficiency syndrome reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function.

Where is the SLC2A1 gene located?

Cytogenetic Location: 1p34.2

Molecular Location on chromosome 1: base pairs 42,925,374 to 42,959,175

The SLC2A1 gene is located on the short (p) arm of chromosome 1 at position 34.2.

The SLC2A1 gene is located on the short (p) arm of chromosome 1 at position 34.2.

More precisely, the SLC2A1 gene is located from base pair 42,925,374 to base pair 42,959,175 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 SLC2A1?

You and your healthcare professional may find the following resources about SLC2A1 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 SLC2A1 gene or gene products?

  • DYT9
  • DYT17
  • DYT18
  • GLUT
  • GLUT1
  • GTR1_HUMAN
  • MGC141895
  • MGC141896

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 SLC2A1?

blood-brain barrier ; capillaries ; carrier ; deficiency ; developmental delay ; disability ; epilepsy ; gene ; glia ; glucose ; neurological ; protein ; simple sugar ; solute ; syndrome ; tissue

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

References

  • Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009 Aug;31(7):545-52. doi: 10.1016/j.braindev.2009.02.008. Epub 2009 Mar 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19304421?dopt=Abstract)
  • Guo X, Geng M, Du G. Glucose transporter 1, distribution in the brain and in neural disorders: its relationship with transport of neuroactive drugs through the blood-brain barrier. Biochem Genet. 2005 Apr;43(3-4):175-87. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15932065?dopt=Abstract)
  • Klepper J. Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol. 2004 Apr;17(2):193-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021248?dopt=Abstract)
  • Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. (http://www.ncbi.nlm.nih.gov/pubmed/20129935?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6513)
  • Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia. Arch Neurol. 2007 Apr;64(4):507-13. Epub 2007 Feb 12. (http://www.ncbi.nlm.nih.gov/pubmed/17296829?dopt=Abstract)
  • Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol. 2004 May;150(5):627-33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15132717?dopt=Abstract)
  • Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23443458?dopt=Abstract)
  • Rotstein M, Engelstad K, Yang H, Wang D, Levy B, Chung WK, De Vivo DC. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec;68(6):955-8. doi: 10.1002/ana.22088. (http://www.ncbi.nlm.nih.gov/pubmed/20687207?dopt=Abstract)
  • Simpson IA, Carruthers A, Vannucci SJ. Supply and demand in cerebral energy metabolism: the role of nutrient transporters. J Cereb Blood Flow Metab. 2007 Nov;27(11):1766-91. Epub 2007 Jun 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17579656?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1 (http://omim.org/entry/138140)
  • Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun RP, De Vivo DC. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 Jan;57(1):111-8. (http://www.ncbi.nlm.nih.gov/pubmed/15622525?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: March 2014
Published: December 16, 2014