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GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1] Glucose Transporter Type 1 Deficiency Syndrome has an estimated ...
Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the SLC2A1 gene. [1] GLUT1 facilitates the transport of glucose across the plasma membranes of mammalian cells. [ 2 ]
GLUT proteins transport glucose and related hexoses according to a model of alternate conformation, [5] [6] [7] which predicts that the transporter exposes a single substrate binding site toward either the outside or the inside of the cell.
Among them, GLUT1-5 are the most extensively studied. However, for study GLUTs 1-4 or the Class I GLUTs are the most relevant. For more information on other GLUTs see sources 3 and 7, or the GLUT specific wikipedia pages. GLUT1 is a hydrophobic protein and 50% of GLUT1 is in the lipid bilayer.
Glucose transporter type 4 (GLUT4), also known as solute carrier family 2, facilitated glucose transporter member 4, is a protein encoded, in humans, by the SLC2A4 gene. GLUT4 is the insulin -regulated glucose transporter found primarily in adipose tissues and striated muscle (skeletal and cardiac).
GLUT1 deficiency syndrome 1 [59] SLC46A1: Q96NT5: Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream.
6518 56485 Ensembl ENSG00000142583 ENSMUSG00000028976 UniProt P22732 Q9WV38 RefSeq (mRNA) NM_001135585 NM_003039 NM_001328619 NM_001328620 NM_001328621 NM_019741 RefSeq (protein) NP_001129057 NP_001315548 NP_001315549 NP_001315550 NP_003030 NP_062715 Location (UCSC) Chr 1: 9.04 – 9.09 Mb Chr 4: 150.2 – 150.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GLUT5 is a fructose ...
Sodium-dependent glucose cotransporters (or sodium-glucose linked transporter, SGLT) are a family of glucose transporter found in the intestinal mucosa (enterocytes) of the small intestine (SGLT1) and the proximal tubule of the nephron (SGLT2 in PCT and SGLT1 in PST). They contribute to renal glucose reabsorption.