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SLC2A1
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SLC2A1

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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? 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 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: 1p35-p31.3

Molecular Location on chromosome 1: base pairs 43,164,101 to 43,197,087

The SLC2A1 gene is located on the short (p) arm of chromosome 1 between positions 35 and 31.3.

The SLC2A1 gene is located on the short (p) arm of chromosome 1 between positions 35 and 31.3.

More precisely, the SLC2A1 gene is located from base pair 43,164,101 to base pair 43,197,087 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?

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

See How are genetic conditions and genes named? in the Handbook.

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 ; cell ; deficiency ; gene ; glucose ; molecule ; mutation ; protein ; sign ; simple sugar ; solute ; symptom ; 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: February 2008
Published: November 20, 2009