GLUT1
GLUT1 or Glucose transporter 1 is a protein that in humans is encoded by the SLC2A1 gene. GLUT1 facilitates the transport of glucose across the plasma membranes of mammalian cells.
Structure[edit | edit source]
GLUT1 is a member of a family of glucose transporter proteins that facilitate glucose transport across the cell membrane. The GLUT1 protein is encoded by the SLC2A1 gene and is made up of 492 amino acids. It has a molecular weight of approximately 54 kDa.
Function[edit | edit source]
GLUT1 is responsible for the low-level of basal glucose uptake required to sustain respiration in all cells. It is also a primary glucose transporter in the blood-brain barrier and it is responsible for glucose transport into the brain.
Clinical significance[edit | edit source]
Mutations in the SLC2A1 gene that affect the function of GLUT1 are responsible for GLUT1 deficiency syndrome. This syndrome is characterized by a variety of conditions including epilepsy, developmental delay, movement disorder, and microcephaly.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD