RETSAT
The retsat Gene: A Vital Player in Brain Development
Description
The retsat gene (also known as RT1 homolog) is located on chromosome 1 and plays a crucial role in the proper development and function of the brain. It encodes the Reelin protein, an extracellular matrix protein that helps guide neurons during brain development. Reelin is expressed primarily by Cajal-Retzius cells in the cerebral cortex and is involved in the formation of cortical layers.
Associated Diseases
Mutations in the retsat gene have been linked to several neurodevelopmental disorders, including:
- Lissencephaly: A severe brain malformation characterized by a smooth, featureless cerebral cortex.
- Miller-Dieker syndrome: A rare genetic disorder characterized by microcephaly (small head size), seizures, and facial abnormalities.
- Schizophrenia: A complex psychiatric disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in 4,000 newborns is affected by lissencephaly, the most severe form of retsat-related brain malformation.
