This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. 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.
Immunogen Information
Immunogen
Synthesized peptide derived from the C-terminal region of human Glut1
Swissprot
P11166
Synonyms
Choreoathetosis/spasticity episodic (paroxysmal choreoathetosis/spasticity)CSEDYT17DYT18DYT9EIG12erythrocyte/brainErythrocyte/hepatoma glucose transporterfacilitated glucose transporter member 1Glucose transporter 1Glucose transporter type 1Glu