KIAA1211L
Kiaa1211l: A Comprehensive Guide to a Gene Linked to Neurodevelopmental Disorders
Description
Kiaa1211l is a gene located on the X chromosome that encodes a protein of the same name. The kiaa1211l protein is primarily expressed in the brain and has been implicated in regulating neuronal development and function. Mutations in the kiaa1211l gene have been associated with several neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and schizophrenia.
Associated Diseases
The following neurodevelopmental disorders have been linked to mutations in the kiaa1211l gene:
- Intellectual Disability: Kiaa1211l mutations can cause a range of intellectual disabilities, from mild to severe. Affected individuals may have difficulty with learning, speech, and problem-solving.
- Autism Spectrum Disorder: Mutations in kiaa1211l have been associated with an increased risk of autism spectrum disorder (ASD). Individuals with ASD may exhibit social deficits, communication difficulties, and repetitive behaviors.
- Schizophrenia: Some studies have suggested that kiaa1211l mutations may also be a risk factor for schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Approximately 1 in every 5000 males is estimated to carry a mutation in the kiaa1211l gene. This makes kiaa1211l one of the most common genes associated with neurodevelopmental disorders.
