SLC2A10

SLC2A10 is a gene that provides instructions for making a protein called GLUT10. This protein is a member of a protein family that transports glucose across the cell membrane. GLUT10 is found in many tissues, including the heart, liver, and blood vessels. Mutations in the SLC2A10 gene cause a disorder called arterial tortuosity syndrome.

Function

The SLC2A10 gene provides instructions for making a protein that is involved in the transport of glucose across cell membranes. This protein, called GLUT10, is a member of a family of proteins known as glucose transporters. These proteins play a critical role in controlling the distribution of glucose, a simple sugar, into cells.

Clinical significance

Mutations in the SLC2A10 gene have been associated with Arterial Tortuosity Syndrome, a rare disorder characterized by elongation and tortuosity of the major arteries. This condition can lead to life-threatening complications such as aneurysms, dissections, and stenosis of the pulmonary arteries.

Genetics

The SLC2A10 gene is located on the long (q) arm of chromosome 20 at position 13.1. More precisely, the SLC2A10 gene is located from base pair 43,263,894 to base pair 43,278,879 on chromosome 20.

See also

• Glucose transporter
• Arterial Tortuosity Syndrome
• Chromosome 20

References

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External links

• SLC2A10 at the Genetics Home Reference
• SLC2A10 at the National Center for Biotechnology Information

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