Description
Product Characteristics:
Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: ATS, GLUT10, Solute carrier family 2, facilitated glucose transporter member 10, Glucose transporter type 10, GLUT-10, SLC2A10
Target Information: This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]