Slc2a10, also known as the gene encoding facilitative glucose transporter GLUT10, is a member of the class III facilitative glucose transporter family. It may be involved in the transport of dehydroascorbic acid, and is associated with pathways related to connective tissue development and glucose metabolism. Its proper function is crucial for normal arterial structure and potentially for diabetes-related processes [1,2,3,4]. Genetic models, like mouse models, are valuable for studying its functions.

In mice, Slc2a10-deficient models were generated to study Arterial Tortuosity Syndrome (ATS). Gulo;Slc2a10 double-knock-out mice (lacking both Slc2a10 and an enzyme for ascorbic acid biosynthesis) showed mild phenotypic anomalies, compromised extracellular matrix formation, and mitochondrial function defects in smooth muscle cells, indicating ATS may be an ascorbate compartmentalization disorder [1]. Mice with GLUT10 missense mutations (c.383G>A and c.449C>T) had thickening and irregular vessel wall shape in large and medium-size arteries, with increased elastic fibres, providing insights into the pathogenesis of arterial tortuosity in human ATS [3].

In conclusion, Slc2a10 plays a vital role in maintaining normal arterial structure, likely through its influence on extracellular matrix formation and mitochondrial function. Gene-knockout mouse models have been instrumental in revealing its role in ATS, deepening our understanding of the disease mechanism and potentially guiding future research and treatment strategies for this connective-tissue disorder [1,3].