免 疫 原：KLH conjugated synthetic peptide derived from human GLUT1
SWISS：P11166
Gene ID ：6513
Human Gene ID：6513

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. [provided by RefSeq, Jul 2008].
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.
Subcellular Location：Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue Specificity：Expressed at variable levels in many human tissues.
Post-translational modifications：Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE：Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]; also known as blood-brain barrier glucose transport defect. A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype compris
Similarity：Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.