The SLC2A10 gene encodes for glucose transporter 10 (GLUT10) which is a member of the class III facilitative glucose transporter family. It plays a significant role in maintaining glucose homeostasis.
The SLC2A10 gene encodes for glucose transporter 10 (GLUT10) which is a member of the class III facilitative glucose transporter family. It plays a significant role in maintaining glucose homeostasis.
SLC2A10 is located on the long arm of chromosome 20 at 20q13.1 and spans approximately 28 kb of genomic DNA with a coding sequence consisting of 5 exons and 4 introns. The protein product of this gene is 541 amino acids long and weights 57 kDa. It is expressed in a variety of tissues, including insulin-sensitive organs, such as heart, liver, pancreas, and adipose tissue. Like other GLUTs, the secondary structure of GLUT10 contains 12 transmembrane domains, a hydrophilic intracellular loop between helices 6 and 7, and a large extracellular loop containing a potential N-linked glycosylation site between helices 9 and 10.
The SLC2A10 gene has previously been considered as a candidate gene for diabetes because of its function in glucose transport and its map position, which coincides with a type 2 diabetes locus. However, genetic studies of the polymorphisms of this gene have been shown not to be a major contributor to the type 2 diabetes susceptibility.
SLC2A10 gene mutations are known to cause arterial tortuosity syndrome (ATS) in humans. It was proposed that loss-of-function of the transporter results in diminished glucose responsive transcription of decorin, a known inhibitor of the transforming growth factor beta (TGFb) signaling pathway. This leads to upregulation of the TGFb responsive elements, connective tissue growth factor, and versican, impairing proper extracellular matrix formation, in particular, elastogenesis.