C16orf91
Understanding c16orf91: A Gene Linked to Neurodevelopmental Disorders
Description
C16orf91 is a gene located on chromosome 16p11.2. It encodes a protein of 91 amino acids that is involved in the regulation of synaptic transmission and plasticity. Dysregulation of c16orf91 has been implicated in various neurodevelopmental disorders.
Associated Diseases
Mutations in the c16orf91 gene have been associated with a range of neurodevelopmental disorders, including:
- Intellectual disability: Characterized by significant difficulties in learning, reasoning, and problem-solving.
- Autism spectrum disorder: A developmental condition that affects social interaction, communication, and behavior.
- Schizophrenia: A severe mental illness that can cause hallucinations, delusions, and disorganized thinking.
Did you Know ?
A study published in the journal Nature Genetics found that deletions of the c16orf91 gene are present in approximately 0.1% of individuals with autism spectrum disorder, making it one of the most common genetic causes of the condition.
