RIC8A

---

Understanding the RIC8A Gene: A Complex Role in Neurodevelopment and Epileptic Disorders

Description

The RIC8A gene encodes a protein called RIC8A, which plays a crucial role in neurodevelopment and synaptic function. This protein is involved in multiple cellular processes, including regulation of gene expression, cell adhesion, and neuronal migration.

Associated Diseases

Mutations in the RIC8A gene have been linked to a range of neurological disorders, including:

• X-linked intellectual disability (XLID)
• Phelan-McDermid syndrome (PMS)
• Autism spectrum disorder (ASD)
• Epilepsy

Did you Know ?

Approximately 1 in 25,000 males have a recognizable form of XLID caused by mutations in the RIC8A gene.