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.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.