Gene Symbol | SLC2A1 |
Entrez Gene ID | 6513 |
Full Name | solute carrier family 2 member 1 |
Synonyms | CSE,DYT17,DYT18,DYT9,EIG12,GLUT,GLUT-1,GLUT1,GLUT1DS,HTLVR,PED,SDCHCN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]. |
Disorder MIM: | |
Disorder Html: | GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3); GLUT1 deficiency syndrome 2, childhood onset, 612126 (3); {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3); Dystonia 9, 601042 (3); Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3) |