C16orf92
C16orf92: A Protein with Intriguing Roles in Disease and Development
Description
C16orf92 is a protein encoded by the C16orf92 gene, located on chromosome 16. It is a large protein, consisting of 1,659 amino acids, and plays a crucial role in various cellular processes. C16orf92 is highly conserved across species, indicating its essential function throughout evolution.
Associated Diseases
1. Autism Spectrum Disorder (ASD)
C16orf92 has been implicated in the development of autism spectrum disorder. Studies have found that mutations or deletions in the C16orf92 gene are associated with an increased risk of ASD. These mutations often result in abnormal expression or function of the C16orf92 protein.
2. Cancer
C16orf92 has been found to play a role in cancer development, particularly in lung cancer. Alterations in C16orf92 expression have been observed in lung cancer cells, and these changes are linked to increased cell proliferation, migration, and invasion.
3. Neurodegenerative Diseases
Some research suggests that C16orf92 may be involved in neurodegenerative diseases such as Alzheimer's disease. Studies have identified alterations in C16orf92 expression in Alzheimer's disease patients, and these changes are associated with disease progression and cognitive decline.
Did you Know ?
- Approximately 1 in 100 individuals with autism spectrum disorder have mutations in the C16orf92 gene.
