KIAA0355
KIAA0355: An Emerging Gene Implicated in Neurological and Developmental Disorders
Description
KIAA0355 (previously known as KIAA1799) is a gene that encodes a protein of the same name. This protein is expressed in various tissues, including the brain, heart, and skeletal muscle. It is thought to play a role in neuronal development and function.
Associated Diseases
Mutations in the KIAA0355 gene have been linked to a range of neurological and developmental disorders, including:
- Intellectual disability: Children with KIAA0355 mutations often have intellectual disabilities, ranging from mild to severe.
- Autism spectrum disorder (ASD): KIAA0355 mutations have been identified in some individuals with ASD, particularly those with speech and language difficulties.
- Epilepsy: Seizures are a common symptom in individuals with KIAA0355 mutations.
- Schizophrenia: Recent research suggests that KIAA0355 mutations may increase the risk of developing schizophrenia.
- Other neurological disorders: KIAA0355 mutations have also been associated with ataxia, a condition characterized by difficulty with coordination and balance.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by a KIAA0355 mutation.
