Disease:Defects in SLC2A1 are the cause of autosomal dominant GLUT1 deficiency syndrome [MIM:606777]; also called blood-brain barrier glucose transport defect. This disease causes a defect in glucose transport across the blood-brain barrier. It is characterized by infantile seizures , delayed development , and acquired microcephaly. ,Disease:Defects in SLC2A1 are the cause of dystonia type 18 (DYT18) [MIM:612126]. DYT18 is an exercise-induced paroxysmal dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contraction , often leading to abnormal postures. DYT18 is characterized by attacks of involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. In some patients involuntary exertion-induced dystonic , choreoathetotic , and ballistic movements may be associated with macrocytic hemolytic anemia. ,Function:Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. ,online information:GLUT1 entry ,PTM:Phosphorylated upon DNA damage , probably by ATM or ATR. ,similarity:Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. ,subcellular location:Localizes primarily at the cell surface (By similarity) . Identified by mass spectrometry in melanosome fractions from stage I to stage IV. ,tissue specificity:Expressed at variable levels in many human tissues. ,
展开内容