C10orf99
C10orf99: An Emerging Key Player in Neurodevelopmental Disorders
Description
C10orf99 is a gene located on chromosome 10 that encodes a protein known as chromosome 10 open reading frame 99 (C10orf99). This protein plays a crucial role in regulating gene expression, specifically in the brain.
C10orf99 is expressed throughout the brain, particularly in the cerebellum, hippocampus, and cerebral cortex. These regions are responsible for key cognitive functions such as learning, memory, and motor control.
Associated Diseases
Dysfunction of C10orf99 has been linked to a range of neurodevelopmental disorders, including:
- Autism Spectrum Disorder (ASD)
- Intellectual Disability
- Developmental Delay
- Schizophrenia
- Attention Deficit Hyperactivity Disorder (ADHD)
In these disorders, mutations or disruptions in C10orf99 gene lead to alterations in protein function, affecting brain development and function.
Did you Know ?
Research has shown that approximately 1 in 100 children with ASD have a mutation in the C10orf99 gene, making it a significant genetic risk factor for this disorder.
