RAMP1
Ramp1 Gene: A Gateway to Cellular Communication
Description
The Ramp1 gene, located on chromosome 11, encodes a protein called Ramp1. This protein is essential for the function of the blood-brain barrier (BBB), a protective layer that surrounds the brain and spinal cord, regulating the entry of substances into the central nervous system. Ramp1 interacts with another protein, Glut1, to form a receptor complex that facilitates the transport of glucose, a vital energy source for the brain, across the BBB.
Associated Diseases
Mutations in the Ramp1 gene have been linked to a number of neurological disorders, including:
- Infantile epileptic encephalopathy-20 (IEE20): A rare genetic disorder characterized by severe seizures that begin in infancy. Mutations in Ramp1 disrupt glucose transport to the brain, leading to impaired neuronal function.
- Histidinemia: An inherited condition where the body cannot properly break down the amino acid histidine. Ramp1 deficiency impairs the transport of histidine across the BBB, resulting in its accumulation in the blood and tissues.
- GLUT1 deficiency syndrome: A rare disorder that affects glucose transport in the brain and other organs. Mutations in Ramp1 contribute to the impaired glucose uptake and neurological symptoms associated with this condition.
Did you Know ?
Studies have shown that approximately 1 in 100,000 individuals worldwide are affected by GLUT1 deficiency syndrome. This highlights the relatively rare nature of Ramp1-related disorders, while also emphasizing their importance as potential targets for research and treatment.
