Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SLC2A1

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.

Read more about gene names and symbols on the About page.

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? 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? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (12 links)

 

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? in the Handbook.

 
Reviewed: March 2014
Published: September 8, 2014