solute carrier family 2 member 1(SLC2A1) Homo sapiens 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],
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Function:
Facilitative glucose transporter, which is 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 . Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain . In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity).
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Cellular Localization:
Membranous
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Tissue Expression:
Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.