FAM129B
FAM129B: A Gene with a Role in Autism and Other Neurological Disorders
Description
FAM129B, also known as C1orf112, is a gene located on chromosome 1 in humans. It encodes a protein that is thought to play a role in the formation and function of synapses, which are the junctions between neurons that allow them to communicate with each other.
Associated Diseases
Mutations in the FAM129B gene have been linked to a number of neurological disorders, including:
- Autism spectrum disorder (ASD): ASD is a developmental disorder that affects a child's ability to communicate and interact with others.
- Intellectual disability: Intellectual disability is a condition that affects a person's ability to learn and function in everyday life.
- Epilepsy: Epilepsy is a neurological disorder that causes recurrent seizures.
- Schizophrenia: Schizophrenia is a mental illness that affects a person's thoughts, feelings, and behavior.
Did you Know ?
- Mutations in the FAM129B gene are estimated to be responsible for about 1% of cases of autism spectrum disorder.
