組織特異性Widely expressed; highest levels in liver and pancreas.
関連疾患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.
配列類似性Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.