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Genetics Home Reference: your guide to understanding genetic conditions
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SLC2A1

Reviewed February 2008

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). This protein is part of the membranes of cells, where it transports glucose (a simple sugar) from the blood into the cells for use as fuel.

Glucose transporter protein type 1 is involved in moving glucose across the blood-brain barrier, which is the boundary that separates tiny blood vessels (capillaries) from the surrounding brain tissue. Glucose is the brain's main energy source under normal conditions. The blood-brain barrier protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain.

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 50 SLC2A1 gene mutations have been reported in people with GLUT1 deficiency syndrome. These mutations reduce or eliminate the function of the glucose transporter protein type 1 produced from one copy of the gene in each cell. Reduced transporter function lessens the availability of glucose, resulting in the signs and symptoms of GLUT1 deficiency syndrome.

Where is the SLC2A1 gene located?

Cytogenetic Location: 1p34.2

Molecular Location on chromosome 1: base pairs 43,391,045 to 43,424,846

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 43,391,045 to base pair 43,424,846 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.

  • Educational resources - Information pages
    Molecular Cell Biology (fourth edition, 2000): GLUT1 Transports Glucose into Most Mammalian Cells (http://www.ncbi.nlm.nih.gov/books/NBK21669/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1430/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SLC2A1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6513%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SLC2A1%5BTIAB%5D)%20OR%20((GLUT%5BTIAB%5D)%20OR%20(GLUT1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/138140)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC2A1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6513)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6513)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11005)

What other names do people use for the SLC2A1 gene or gene products?

  • 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 ; cell ; deficiency ; gene ; glucose ; 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, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol. 2001 Oct;50(4):476-85. (http://www.ncbi.nlm.nih.gov/pubmed/11603379?dopt=Abstract)
  • De Vivo DC, Leary L, Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol. 2002 Dec;17 Suppl 3:3S15-23; discussion 3S24-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12597052?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6513)
  • 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, Leiendecker B. GLUT1 deficiency syndrome--2007 update. Dev Med Child Neurol. 2007 Sep;49(9):707-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17718830?dopt=Abstract)
  • Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, Flörcken A, Voit T. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet. 2001 Jan 1;10(1):63-8. (http://www.ncbi.nlm.nih.gov/pubmed/11136715?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)
  • OMIM: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1 (http://omim.org/entry/138140)
  • 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)
  • Seidner G, Alvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet. 1998 Feb;18(2):188-91. (http://www.ncbi.nlm.nih.gov/pubmed/9462754?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)
  • 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: February 2008
Published: June 17, 2013