FAM24A
Description
FAM24A, also known as family with sequence similarity 24 member A, is a protein encoded by the FAM24A gene in humans. It is a transmembrane protein that plays a crucial role in various cellular processes, including cell adhesion, migration, and signaling. FAM24A is highly expressed in epithelial cells, endothelial cells, and immune cells.
Associated Diseases
Mutations in the FAM24A gene have been linked to several diseases, including:
- Hydrocephalus: An abnormal accumulation of cerebrospinal fluid in the brain, causing increased head size and developmental delays.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
- Intellectual disability: A condition characterized by significant limitations in intellectual functioning and adaptive behavior.
- Schizophrenia: A serious mental disorder that can affect a person‘s thoughts, feelings, and behavior.
- Autism spectrum disorder (ASD): A developmental disorder characterized by difficulties with social interaction, communication, and repetitive behaviors.
Did you Know ?
The FAM24A gene is estimated to be mutated in approximately 1% of individuals with hydrocephalus.
