SLC2A1
SLC2A1, also known as the glucose transporter type 1 (GLUT1), is a protein that plays a crucial role in transporting glucose across cell membranes. It is primarily found in the brain, red blood cells, and the blood-brain barrier, where it helps maintain glucose levels necessary for energy production and proper cellular function.
Mutations in the SLC2A1 gene can lead to various health conditions, including Glucose Transporter Type 1 Deficiency Syndrome (GLUT1 DS), which can cause seizures, developmental delays, and movement disorders. Understanding SLC2A1 is essential for developing treatments for these conditions and improving patient outcomes.