C7orf69
c7orf69: A Gene Linked to Complex Neurodevelopmental Disorders
Description
c7orf69 is a gene located on chromosome 7 in humans. It encodes a protein that plays a crucial role in brain development and function. The c7orf69 protein is involved in regulating the expression of other genes, particularly those involved in the development and maintenance of the nervous system.
Associated Diseases
Mutations in the c7orf69 gene have been linked to a number of neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Intellectual disability
- Microcephaly (small head size)
- Epilepsy
- Spina bifida
These disorders often manifest with a range of symptoms, including difficulties with social interaction, communication, and learning. In some cases, they may also be associated with physical abnormalities and medical complications.
Did you Know ?
According to recent studies, mutations in the c7orf69 gene are estimated to account for approximately 1% of cases of ASD. This makes it one of the most common genetic causes of this disorder.
