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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 ...
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human 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. GLUT1 facilitates the transport of glucose across ...
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-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (), and weight loss when fed breast milk or regular infant formulas.
low-affinity glucose transporter [3] Hxt4: Vm = 12.0, Kd = 0.049, Km = 6.2 [1] intermediate-affinity glucose transporter [3] Hxt5: Km = 10 mM [4] Moderate glucose affinity. Abundant during stationary phase, sporulation and low glucose conditions. Transcription repressed by glucose. [4] Hxt6: Vm = 11.4, Kd = 0.029, Km = 0.9/14, [1] 1.5 mM [3 ...
A glucose transporter (GLUT) protein is needed to assist glucose into (and in the liver and kidneys, also out of) the cell. De Vivo disease (GLUT1 deficiency) is a deficiency of GLUT1, which is needed to transport glucose across the blood-brain barrier.
GLUT-1 is a glucose transporter present in most mammalian cells (Figure 5) (12). Its structure is nearly identical to that of GalP – possessing cytoplasmic amino and carboxy termini, twelve membrane spanning α helices, a periplasmic glycosylation site between helices 1 and 2, and a cytoplasmic α-helix loop between helices 6 and 7 (12).
Facilitative glucose transporter. This isoform may be 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. GLUT1 deficiency syndrome 1 [59] SLC46A1: Q96NT5