Specificity
This antibody recognises human Solute carrier family 2, facilitated glucose transporter member 1, also known as GLUT-1, glucose transporter type 1, erythrocyte/brain or HepG2 glucose transporter. GLUT-1 is a 492 amino acid ~50 kDa multi-pass transmembrane glycoprotein involved in cellular uptake of glucose.Mutations in the GLUT1 gene can lead to a number of chronic conditions including GLUT1 deficiency syndrome 1 (GLUT1DS1), a neurologic disorder with wide phenotypic variability , GLUT1 deficiency syndrome 2 (GLUT1DS2), characterized by juvenile onset of excercise-induced dyskinesia , Epilepsy, idiopathic generalized 12 (EIG12) a condition presenting with repeated generalized seizures and Dystonia 9 (DYT9) a dominant inherited disorder presenting as a childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia.