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SLC2A10 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC2A10 gene

The SLC2A10 gene encodes the GLUT10 protein, which plays a critical role in regulating cell growth pathways and maintaining the structure of connective tissues.

Normal Function

The SLC2A10 gene provides instructions for making a protein called GLUT10. GLUT10 is classified as a glucose transporter; this type of protein moves the simple sugar glucose across cell membranes and helps maintain proper levels of glucose within cells. However, GLUT10 has some structural differences from other glucose transporters, and its role in the movement of glucose or other substances is unclear.

The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-β) signaling pathway. This pathway is involved in cell growth and division (proliferation) and the process by which cells mature to carry out special functions (differentiation). The TGF-β signaling pathway is also involved in bone and blood vessel development and the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells and defines the structure and properties of connective tissues. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.

Studies indicate that GLUT10 may also be involved in the functioning of mitochondria, the energy-producing centers within cells.

Health Conditions Related to Genetic Changes

Arterial tortuosity syndrome

At least 23 SLC2A10 gene mutations have been identified in people with arterial tortuosity syndrome, a connective tissue disorder characterized by abnormal curving and twisting (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (arteries) and other health problems.

The mutations that cause arterial tortuosity syndrome reduce or eliminate GLUT10 function. By mechanisms that are not well understood, a lack (deficiency) of functional GLUT10 protein leads to overactivity (upregulation) of TGF-β signaling. Excessive growth signaling results in elongation of the arteries. Since the end points of the arteries are fixed, the extra length twists and curves, leading to tortuosity. Overactive TGF-β signaling also interferes with normal formation of the connective tissues in other parts of the body, leading to the joint and skin abnormalities and other features of arterial tortuosity syndrome.

Other disorders

Several normal variations (polymorphisms) of the SLC2A10 gene have been associated with an increased risk of peripheral artery disease in people with type 2 diabetes. Peripheral artery disease is a condition in which an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis) reduces blood flow to the legs, causing pain when walking.

Other Names for This Gene

  • ATS
  • glucose transporter type 10
  • GLUT-10
  • GLUT10
  • GTR10_HUMAN
  • solute carrier family 2 (facilitated glucose transporter), member 10
  • solute carrier family 2, facilitated glucose transporter member 10

Frequently Asked Questions

rterial Tortuosity Syndrome (ATS) is characterized by abnormal curving and twisting (tortuosity) of the arteries throughout the body. Other signs can include soft, doughy skin, joint hypermobility, hernias, and distinctive facial features. These symptoms are due to the disorder affecting connective tissues.
The primary serious complications of ATS involve the arteries, which can become weakened and prone to developing aneurysms (bulges), dissections (tears in the vessel wall), or ruptures. These can lead to life-threatening internal bleeding or organ damage, requiring urgent medical attention.
Management of ATS is primarily supportive and focuses on monitoring and preventing complications. Regular imaging studies (like echocardiograms, CT scans, or MRIs) are crucial to monitor the condition of the arteries. Medications may be used to control blood pressure, and surgical intervention might be necessary to repair or replace severely affected blood vessels. Physical therapy can help manage joint issues.
Yes, Arterial Tortuosity Syndrome (ATS) is an inherited condition caused by mutations in the SLC2A10 gene. It is typically inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the altered gene (one from each parent) to develop the condition. Parents who each carry one copy of the altered gene are usually unaffected but have a 25% chance with each pregnancy of having a child with ATS.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.