C17orf51
C17orf51: A Gene Linked to Intellectual Disability and Autism Spectrum Disorder
Description
C17orf51 (chromosome 17 open reading frame 51) is a gene located on chromosome 17 in humans. It codes for a protein of the same name that plays a crucial role in brain development and function.
C17orf51 protein is involved in several cellular processes, including:
- Neuronal development and migration
- Synapse formation
- Transcriptional regulation
Mutations in the C17orf51 gene can disrupt these processes, leading to neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD).
Associated Diseases
C17orf51 mutations have been linked to:
- Intellectual disability: Characterized by significant limitations in cognitive abilities, including learning, problem-solving, and social interaction.
- Autism spectrum disorder: A neurodevelopmental condition characterized by social communication difficulties, repetitive behaviors, and restricted interests.
Individuals with C17orf51-related disorders may also experience:
- Speech and language delays
- Behavioral issues
- Sleep problems
- Attention deficit hyperactivity disorder (ADHD)
Did you Know ?
- Mutations in the C17orf51 gene are estimated to cause approximately 1% of cases of intellectual disability and 2% of cases of ASD.
