C17orf82
c17orf82: A Gene with a Role in Neurodevelopmental Disorders
Description
c17orf82 (chromosome 17 open reading frame 82) is a gene located on chromosome 17 in humans. It encodes a protein that is thought to play a role in the development and function of the nervous system. Mutations in c17orf82 have been linked to several neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability, and schizophrenia.
The c17orf82 gene consists of 11 exons and spans over 100 kilobases of DNA. The protein encoded by c17orf82 is 392 amino acids long and has a molecular weight of approximately 44 kDa. It contains several conserved domains, including an N-terminal coiled-coil domain and a C-terminal transmembrane domain.
Associated Diseases
Mutations in c17orf82 have been associated with a number of neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD): ASD is a complex developmental disorder characterized by difficulties with social interaction and communication, as well as repetitive behaviors. Mutations in c17orf82 have been found in a small percentage of individuals with ASD.
- Intellectual disability (ID): ID is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. Mutations in c17orf82 have been found in some individuals with ID.
- Schizophrenia: Schizophrenia is a severe mental disorder characterized by hallucinations, delusions, and disorganized thinking. Mutations in c17orf82 have been associated with an increased risk of schizophrenia.
Did you Know ?
Approximately 1 in 100 individuals with ASD have a mutation in the c17orf82 gene. This makes c17orf82 one of the most common genetic risk factors for ASD.
