What does the GLUT1 protein do?

GLUT1 is an integral membrane hydrophobic protein that comprises of 492 amino acids with a molecular weight of 54 kDa. It helps in the transport of glucose, galactose, mannose, glucosamine and ascorbic acid. It is also known as erythrocyte/brain; HepG2 GLUT protein.

What happens when there is a GLUT1 deficiency in an individual?

Without proper levels of Glut1, the body cannot transport sufficient amounts of glucose across the blood-brain barrier and other cell membranes. The blood-brain barrier basically determines what materials from the blood can enter the brain. Without proper levels of glucose, the brain cannot grow and function properly.

What is GLUT2 used for?

GLUT2 is the major glucose transporter inβ -cells of pancreatic islets and hepatocytes. In both cell types, GLUT2 mediates the facilitated diffusion of glucose across the cell membranes, and then intracellular glucose metabolism is initiated by the glucose-phosphorylating enzyme, hexokinase IV or glucokinase.

How common is GLUT1 deficiency?

GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people.

Does GLUT2 need insulin?

It is the principal transporter for transfer of glucose between liver and blood Unlike GLUT4, it does not rely on insulin for facilitated diffusion.

How common is GLUT1?

How rare is GLUT1?

What is GLUT1?

Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients.

What are symptoms of glut?

In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly ).