FAM66C
Description of FAM66C
FAM66C, also known as family with sequence similarity 66 member C, is a ubiquitously expressed protein involved in various cellular processes. It consists of 132 amino acids and belongs to the FAM66 protein family.
Associated Diseases
Mutations in FAM66C have been linked to several neurological disorders, including:
- Epilepsy: FAM66C mutations are associated with a rare form of epilepsy known as familial focal epilepsy with variable foci (FFEVF). FFEVF is characterized by frequent seizures, which often begin in childhood or adolescence.
- Intellectual Disability: Mutations in FAM66C can cause various degrees of intellectual disability, ranging from mild to severe.
- Neurodevelopmental Disorders: FAM66C has also been implicated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).
Did you Know ?
- Approximately 1 in 50,000 individuals are affected by FFEVF, a rare form of epilepsy caused by FAM66C mutations.
