SLC2A1
LOCUS ID6513
GENE_SYMBOLSLC2A1
GENE NAMEsolute carrier family 2 (facilitated glucose transporter), member 1
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