SLC2A1

SLC2A1 is a gene that provides instructions for producing a protein called GLUT1. This protein is critical for the transport of glucose (a simple sugar) across the protective membrane that surrounds cells, the cell membrane. The GLUT1 protein is especially important in the brain, which is a major consumer of glucose. Glucose is the primary source of energy for the human brain, and GLUT1 facilitates its transport across the blood-brain barrier, a network of blood vessels that protects the brain from harmful substances.

Function

The SLC2A1 gene provides instructions for making a protein that is involved in the transport of glucose across the cell membrane. This protein, called GLUT1, is found in the cell membranes of many types of cells, but it is most abundant in cells of the brain and red blood cells.

Clinical significance

Mutations in the SLC2A1 gene are associated with GLUT1 deficiency syndrome, which can cause a variety of neurological symptoms, including epilepsy, movement disorders, and developmental delay.

See also

• Glucose transporter
• GLUT1 deficiency syndrome

External links

• GeneReviews/NCBI/NIH/UW entry on GLUT1 Deficiency Syndrome
• OMIM entries on GLUT1 Deficiency Syndrome

SLC2A1 Resources
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