[GTR1_HUMAN] Hereditary cryohydrocytosis with reduced stomatin;Paroxysmal exertion-induced dyskinesia;Encephalopathy due to GLUT1 deficiency;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Childhood absence epilepsy;Epilepsy with myoclonic-astatic seizures. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[GTR1_HUMAN] 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.
