C12orf77
C12orf77: An Enigmatic Gene with Implications for Human Health
Description
C12orf77 (chromosome 12 open reading frame 77) is a gene located on chromosome 12q24.13. It consists of 12 exons and encodes a protein of 605 amino acids. The C12orf77 protein is characterized by a coiled-coil domain, which is typically involved in protein-protein interactions.
Associated Diseases
C12orf77 mutations have been implicated in several human diseases, including:
- Congenital heart defects: Mutations in C12orf77 are associated with an increased risk of certain congenital heart defects, such as atrial septal defects (ASDs) and ventricular septal defects (VSDs).
- Eye diseases: C12orf77 mutations have been linked to the development of glaucoma, a leading cause of blindness.
- Neurodevelopmental disorders: Mutations in C12orf77 have been associated with autism, attention deficit hyperactivity disorder (ADHD), and intellectual disability.
- Cancer: Some studies suggest that C12orf77 may play a role in the development of certain cancers, such as melanoma and lung cancer.
Did you Know ?
Approximately 1 in 500 individuals in the general population carry a mutation in the C12orf77 gene. However, the prevalence of mutations varies among different populations and ethnic groups.
