KIAA0391
KIAA0391: A Key Player in Neurodevelopmental Disorders
Description
KIAA0391, also known as C1orf208, is a gene located on chromosome 1. It encodes a protein of the same name that plays a crucial role in the development of the central nervous system (CNS). Research indicates that KIAA0391 is essential for neuronal migration and differentiation, processes that are critical for proper brain formation.
Associated Diseases
Mutations or deletions in the KIAA0391 gene have been linked to several neurodevelopmental disorders, including:
- Microcephaly: A condition characterized by an abnormally small head and brain.
- Intellectual disability: A range of cognitive impairments that affect learning, problem-solving, and social skills.
- Autism spectrum disorder (ASD): A complex neurological disorder that affects communication, social interaction, and repetitive behaviors.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
Did you Know ?
Studies have estimated that approximately 1-2% of cases of microcephaly are caused by mutations in the KIAA0391 gene. This highlights the significance of KIAA0391 in brain development and the potential impact of disruptions to its function.
