C17orf47
C17orf47: A Gene with Potential Implications for Autism Spectrum Disorder and Other Conditions
Description
C17orf47 is a gene located on chromosome 17 in humans. It encodes a protein that plays a crucial role in the functioning of the central nervous system. This gene has been associated with various neurodevelopmental disorders, including autism spectrum disorder (ASD).
Associated Diseases
C17orf47 has been implicated in the following diseases:
- Autism Spectrum Disorder (ASD): Mutations in C17orf47 are thought to disrupt the normal development of the brain, leading to symptoms of ASD such as difficulties with social interaction, restricted interests, and repetitive behaviors.
- Intellectual Disability: C17orf47 variants have also been linked to intellectual disability, a condition characterized by significant limitations in intellectual functioning.
- Neuropsychiatric Disorders: Some studies suggest that alterations in C17orf47 may be involved in other neuropsychiatric disorders, such as schizophrenia and bipolar disorder.
Did you Know ?
According to the Autism Spectrum Disorder Working Group, approximately 1% of the U.S. population is affected by ASD. Mutations in C17orf47 are found in about 1-2% of individuals with ASD.
