KIAA1467
KIAA1467: A Promising Target for Neurodevelopmental Disorders
Description
KIAA1467 is a protein-coding gene located on chromosome 11p15.1. It encodes a 1467-amino acid protein that plays a crucial role in the development and function of the human brain.
Associated Diseases
Mutations in the KIAA1467 gene have been linked to a range of neurodevelopmental disorders, including:
- Intellectual disability: KIAA1467 mutations are associated with varying degrees of intellectual disability, from mild to severe.
- Autism spectrum disorder (ASD): Individuals with ASD and KIAA1467 mutations often exhibit impaired social communication and interaction, as well as repetitive and restricted behaviors.
- Attention deficit hyperactivity disorder (ADHD): KIAA1467 mutations have been associated with ADHD, characterized by difficulty paying attention, hyperactivity, and impulsivity.
- Schizophrenia: Research suggests that KIAA1467 mutations may increase the risk of developing schizophrenia, a severe mental illness that affects cognition, mood, and behavior.
Did you Know ?
Approximately 1% of individuals with intellectual disability have been found to carry mutations in the KIAA1467 gene, making it one of the most commonly identified genetic causes of intellectual disability.
