SLC2A1
LOCUS ID6513
GENE_SYMBOLSLC2A1
GENE NAMEsolute carrier famil
SYNONYMNSCSE, PED, DYT9, GLUT, DYT17, DYT18, EIG12, GLUT1, HTLVR, GL
CHROMOSOME1
HOMOLOGENE ID68520
microRNAsNANA
GENE 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The results demonstrated the high frequency of C allele of SLC2A1 HaeIII in Kurdish patients with diabetic nephropathy.26337659
Cardiovascular1. 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
Retinopathy1. This study provides evidence that SLC2A1 gene variants might be implicated in the development of T2DM microvascular complications. (FROM FULL PAPER: In conclusion, our study provides evidence regarding the contribution of SLC2A1 tag SNPs on the risk of developing the microvascular complications of diabetes. While the underlying pathophysiology and genetic background leading to DR and DN are partially understood and remain unresolved, the involvement of SLC2A1 gene polymorphisms may be a significant, if not essential, factor. )29207384