Anti-Glucose Transporter GLUT1 antibody [EPR3915] - Low endotoxin, Azide free (ab196357)

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.

Expressed at variable levels in many human tissues.

Defects in SLC2A1 are the cause of glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]; also known as 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.
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.

Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.

Phosphorylated upon DNA damage, probably by ATM or ATR.

Cell membrane. Melanosome. Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV.