SLC2A1 : solute carrier family 2 member 1

Description

The SLC2A1 gene, also known as the GLUT1 gene, encodes for the glucose transporter protein 1 (GLUT1). This protein plays a crucial role in facilitating the transport of glucose across the cell membrane, supplying essential energy to cells throughout the body. GLUT1 is particularly important in the brain, where glucose is the primary energy source. Mutations in the SLC2A1 gene can lead to various disorders affecting glucose metabolism and neurological function.

Associated Diseases

• De Vivo-De Giorgi Syndrome
• GLUT1 Deficiency Syndrome
• Severe Cerebral Palsy
• Epilepsy
• Developmental Delay
• Microcephaly

Did you know?

GLUT1 is found in the blood-brain barrier, acting as a gatekeeper for glucose entry into the brain.