SLC2A10 Gene
The SLC2A10 gene provides instructions for making a protein called GLUT10. GLUT10 is classified as a glucose transporter. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-β) signaling pathway. Arterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin, hypermobility of joints and characteristic facial features. This syndrome is caused by mutation in SLC2A10 gene which encodes for the facilitative glucose transporter, GLUT10. A missense c.313C > T mutation encoding a p.Arg105Cys substitution is predicted to be pathogenic. A c.243C > G missense mutation encoding a p.Ser81Arg change is also pathogenic.
