C6orf223
c6orf223: A Gene with Intriguing Roles in Health and Disease
Description
c6orf223 is a gene found on chromosome 6 that encodes a protein of the same name. This protein is primarily expressed in the brain and plays a crucial role in various cellular processes, including transcription, cell proliferation, and apoptosis.
Associated Diseases
Mutations in the c6orf223 gene have been linked to several neurodevelopmental disorders, including:
- Autism spectrum disorder (ASD)
- Attention deficit hyperactivity disorder (ADHD)
- Intellectual disability
- Microcephaly (abnormally small head size)
These mutations can lead to disruptions in the normal function of the c6orf223 protein, affecting brain development and leading to the characteristic symptoms of these disorders.
Did you Know ?
Research studies have found that mutations in c6orf223 account for approximately 1% of cases of autism spectrum disorder. This highlights the potential significance of this gene in the development and understanding of ASD.
