| SLC2A1 |
| LOCUS ID | 6513 | |||||||||||||
| GENE_SYMBOL | SLC2A1 | |||||||||||||
| GENE NAME | solute carrier family 2 (facilitated glucose transporter), member 1 | |||||||||||||
| SYNONYMNS | CSE, PED, DYT9, GLUT, DYT17, DYT18, EIG12, GLUT1, HTLVR, GL | |||||||||||||
| CHROMOSOME | 1 | |||||||||||||
| HOMOLOGENE ID | 68520 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. The results demonstrated the high frequency of C allele of SLC2A1 HaeIII in Kurdish patients with diabetic nephropathy. | 26337659 |
| Cardiovascular | 1. Expression of CSE, a catalyst of H2S production, was suppressed in H9c2 cells treated with high glucose (33 mM) and in DM rat hearts. | 26056963 |